ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.2657A>C (p.His886Pro) rs199473169 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 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.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) rs1369632373 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 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
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 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.1066G>T (p.Asp356Tyr) rs199473565
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp) rs2062008854
NM_000335.5(SCN5A):c.1234del (p.Val412fs)
NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter) rs869025519
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter) rs2125935492
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2677C>A (p.Arg893Ser)
NM_000335.5(SCN5A):c.2777G>A (p.Gly926Asp) rs2061653516
NM_000335.5(SCN5A):c.2787+1G>T rs1060501130
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly) rs2125849528
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs) rs2061270021
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys) rs1403211358
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) rs765907469
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del) rs1559732656
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4296+1dup rs1450434935
NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=) rs794728935
NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr)
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4853del (p.Pro1618fs) rs1575706847
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5248TTC[1] (p.Phe1751del) rs2125826148
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.528dup (p.Leu177fs)
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) rs770059377
NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) rs1575703249
NM_000335.5(SCN5A):c.703+1G>C rs2125914209
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.999-1G>A rs2125906068
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter) rs577421914
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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