List of variants in gene SCN5A reported as likely pathogenic by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
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.1066G>T (p.Asp356Tyr)	rs199473565
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp)	rs2062008854
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.4460C>A (p.Thr1487Lys)	rs199473259
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)	rs137854600
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)	rs199473315

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