ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1141-1G>A rs1377226524 0.00001
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys) rs749864465 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala) rs869025517 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NC_000003.11:g.(?_38591792)_(38593069_?)del
NC_000003.11:g.(?_38591812)_(38593069_?)del
NC_000003.12:g.(?_38548062)_(38551558_?)del
NC_000003.12:g.(?_38585671)_(38604928_?)del
NC_000003.12:g.(?_38609714)_(38609984_?)del
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) rs199473096
NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) rs199473566
NM_000335.5(SCN5A):c.1141-2A>G rs2125905004
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1519-1G>A rs1553704259
NM_000335.5(SCN5A):c.1891-1G>A rs794728858
NM_000335.5(SCN5A):c.2024-1G>A rs2125893875
NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu) rs137854611
NM_000335.5(SCN5A):c.2263-2A>G rs1274495820
NM_000335.5(SCN5A):c.2437-1G>C
NM_000335.5(SCN5A):c.2674T>A (p.Phe892Ile) rs199473170
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys) rs199473174
NM_000335.5(SCN5A):c.273+1G>A rs1057524447
NM_000335.5(SCN5A):c.274-9_274-2del
NM_000335.5(SCN5A):c.2787+1G>T rs1060501130
NM_000335.5(SCN5A):c.3388-1G>A rs2125864009
NM_000335.5(SCN5A):c.3508+1G>C
NM_000335.5(SCN5A):c.3509-1G>A rs1553698563
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.3663+2T>C rs2061467212
NM_000335.5(SCN5A):c.3838-2A>T
NM_000335.5(SCN5A):c.392+2T>G
NM_000335.5(SCN5A):c.393-2A>G rs1312714061
NM_000335.5(SCN5A):c.3961-2_3961del rs794728921
NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu) rs2125841157
NM_000335.5(SCN5A):c.3992C>G (p.Pro1331Arg) rs199473225
NM_000335.5(SCN5A):c.4296+1G>T rs2061175467
NM_000335.5(SCN5A):c.4297-1G>A
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu) rs374557801
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln) rs199473315
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter) rs1559720176
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.5(SCN5A):c.703+1G>C rs2125914209
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr)
NM_000335.5(SCN5A):c.748C>G (p.Leu250Val) rs1559778838
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.935-1G>A
NM_000335.5(SCN5A):c.935-2A>G
NM_000335.5(SCN5A):c.999-1G>A rs2125906068
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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