List of variants in gene SCN5A reported as pathogenic for Sick sinus 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)	rs45620037	0.00068
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp)	rs199473303	0.00005
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)	rs28937319	0.00001
NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	rs1553704183
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	rs199473161
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	rs199473055
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	rs137854612
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613

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