List of variants in gene SCN5A reported as pathogenic for SCN5A-Related Disorders

Minimum submission review status:		Collection method:
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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)	rs765669597	0.00003
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	rs28937316	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys)	rs199473108
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)	rs1417036453
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter)	rs1060501136

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