Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
6544 chr19 42292873 C T
c.6196+14C>T
-
-
-
CIC
3.0
B
23603 chr19 42293012 G GC
c.6259dup
-
p.Gln2087ProfsTer16
-
CIC
4.0
B
12973 chr19 42293126 C T
c.6367C>T
-
p.Arg2123Ter
-
CIC
4.0
B
9049 chr19 42293144 G C
c.6385G>C
-
p.Glu2129Gln
-
CIC
3.0
B
12976 chr19 42293672 TCCCAGCC T
c.6605_6611del
-
p.Pro2202ArgfsTer7
-
CIC
- 4.0
B
1359 chr19 42293835 AAGTG A
c.6767+2_6767+5del
-
p.?
-
CIC
- 3.5
B
31309 chr19 42293948 G C
c.6781G>C
-
p.Glu2261Gln
-
CIC
- 3.0
B
7000 chr19 42293972 G A
c.6805G>A
-
p.Ala2269Thr
-
CIC
- 3.0
B
7798 chr19 42293985 A G
c.6818A>G
-
p.Glu2273Gly
-
CIC
- 3.0
B
11032 chr19 42294288 CACCTTTG C
c.7042_7048del
-
p.Phe2348ValfsTer13
-
CIC
- 4.0
B
5410 chr19 42294721 GCTT G
c.7177_7179del
-
p.Phe2393del
-
CIC
- 3.0
B
12549 chr19 42294845 AG A
c.7210del
-
p.Ala2404ProfsTer15
-
CIC
- 4.0
B
8878 chr19 42294857 C T
c.7220C>T
-
p.Ala2407Val
-
CIC
- 3.0
B
16855 chr19 42295010 C T
c.7373C>T
-
p.Pro2458Leu
-
CIC
3.0
B
18712 chr19 42295055 C T
c.7418C>T
-
p.Ser2473Leu
-
CIC
3.0
B
2530 chr19 42295057 G C
c.7420G>C
-
p.Asp2474His
-
CIC
- 3.0
B
31708 chr19 42295141 C T
c.7504C>T
-
p.Gln2502Ter
-
CIC
- 4.0
B
4555 chr19 43175274 G A
c.905C>T
p.Ser302Phe
- 3.0
B
22790 chr19 43543707 G C
c.1713-20C>G
-
- 3.0
B
34950 chr19 43544136 A G
c.1712+8T>C
-
- 3.0
B