List of variants in gene SCN5A reported as likely pathogenic for Brugada syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)	rs199473561	0.00004
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)	rs137854603	0.00003
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.2677C>T (p.Arg893Cys)	rs199473171	0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)	rs137854616	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)	rs199473282	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.1066G>T (p.Asp356Tyr)	rs199473565
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp)	rs2062008854
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter)	rs2125935492
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.362G>A (p.Arg121Gln)	rs199473058
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.4009CTC[1] (p.Leu1338del)	rs1559732656
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del)	rs794728922
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.4335G>A (p.Met1445Ile)	rs794728936
NM_000335.5(SCN5A):c.4434+5G>A	rs1057520531
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser)	rs2061147191
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.4853del (p.Pro1618fs)	rs1575706847
NM_000335.5(SCN5A):c.5248TTC[1] (p.Phe1751del)	rs2125826148
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs)	rs886037903
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup)	rs1474459822
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val)	rs199473559
NM_000335.5(SCN5A):c.703+1G>C	rs2125914209
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys)	rs199473082
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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