List of variants in gene SCN5A reported as pathogenic for progressive familial heart block, type 1A

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	rs199473072	0.00009
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)	rs757532106	0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)	rs137854608	0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	rs199473101	0.00003
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	rs199473097	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	rs45546039	0.00001
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)	rs397514450
NM_000335.5(SCN5A):c.3960+2T>C	rs397514447
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	rs137854612
NM_000335.5(SCN5A):c.4242+1G>C	rs794728879
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn)	rs137854607
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	rs1060501127
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	rs794728849
NM_198056.2(SCN5A):c.[1535C>T;1673A>G]

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