List of variants in gene SCN5A reported as uncertain significance by Blueprint Genetics

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	rs41261344	0.00222
NM_000335.5(SCN5A):c.998+5G>A	rs187531872	0.00019
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)	rs146848219	0.00009
NM_000335.5(SCN5A):c.393-5C>A	rs368678204	0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)	rs199473044	0.00006
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)	rs199473552	0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu)	rs199473078	0.00004
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)	rs730880207	0.00003
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp)	rs730880205	0.00002
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr)	rs730880202	0.00002
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)	rs368552426	0.00001
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)	rs199473157	0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)	rs566251672	0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)	rs199473177	0.00001
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu)	rs766554531	0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)	rs137854602	0.00001
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val)	rs779999584	0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)	rs886058460	0.00001
NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala)	rs869025517	0.00001
NM_000335.5(SCN5A):c.5668C>G (p.Pro1890Ala)	rs730880208	0.00001
NM_000335.5(SCN5A):c.1140+1G>A	rs730880210
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln)	rs762858787
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)	rs730880211
NM_000335.5(SCN5A):c.1840C>T (p.Pro614Ser)	rs730880204
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr)	rs730880203
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)	rs746291609
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg)	rs199473292
NM_000335.5(SCN5A):c.5072T>C (p.Phe1691Ser)	rs869025521
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn)	rs730880209
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)	rs41315493
NM_000335.5(SCN5A):c.725C>T (p.Ala242Val)	rs869025518

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