Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
6088 chr17 31343097 CTAACTT C
c.7159_7164del
p.Asn2387_Phe2388del
NF1
4.0
B
29327 chr17 31343107 C G
c.7161C>G
p.Asn2387Lys
NF1
3.0
B
8317 chr17 31343113 AT A
c.7169del
p.Leu2390TrpfsTer6
NF1
- 4.0
B
13804 chr17 31343136 G C
c.7189+1G>C
p.?
NF1
4.0
B
21549 chr17 31343137 TA T
c.7189+8del
-
NF1
- 2.0
B
766 chr17 31349156 C G
c.7226C>G
p.Thr2409Arg
NF1
- 3.0
B
30465 chr17 31349188 GT G
c.7260del
p.Asn2421ThrfsTer11
NF1
- 4.0
B
5549 chr17 31349230 CAG C
c.7303_7304del
p.Ser2435ArgfsTer12
NF1
4.0
B
544 chr17 31349232 G C
c.7302G>C
p.Gln2434His
NF1
3.0
B
24173 chr17 31350190 TAC T
c.7331_7332del
p.Thr2444SerfsTer3
NF1
- 4.5
B
2228 chr17 31350209 C T
c.7348C>T
p.Arg2450Ter
NF1
4.5
B
25390 chr17 31352273 C T
c.7474C>T
p.Gln2492Ter
NF1
4.5
B
34240 chr17 31356470 A T
c.7626A>T
p.Lys2542Asn
NF1
- 3.5
B
29394 chr17 31356539 AC A
c.7701del
p.Met2569Ter
NF1
4.5
B
29143 chr17 31356965 CAG C
c.7747_7748del
p.Arg2583AspfsTer12
NF1
4.5
B
32875 chr17 31357103 C T
c.7869+13C>T
-
NF1
- 3.0
B
15311 chr17 31357104 C CT
c.7869+19dup
-
NF1
- 2.0
B
1414 chr17 31357268 G A
c.7870-1G>A
p.?
NF1
4.5
B
5866 chr17 31357308 C T
c.7909C>T
p.Arg2637Ter
NF1
4.5
B
7545 chr17 31358488 TG T
c.7980del
p.Leu2660PhefsTer19
NF1
- 4.5
B