List of variants in gene SCN4A reported as pathogenic by Invitae

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	rs933258893	0.00002
NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter)	rs943370469	0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)	rs121908552	0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	rs80338784	0.00001
NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter)	rs1331907655	0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	rs527236148	0.00001
NM_000334.4(SCN4A):c.918G>A (p.Trp306Ter)	rs759347899	0.00001
NC_000017.10:g.(?_62024385)_(62034898_?)del
NM_000334.4(SCN4A):c.1049_1053del (p.Tyr349_Phe350insTer)
NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	rs1235665641
NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys)	rs864622785
NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	rs121908552
NM_000334.4(SCN4A):c.1495del (p.Asp499fs)
NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)
NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter)	rs778746718
NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)
NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)	rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	rs80338788
NM_000334.4(SCN4A):c.215dup (p.Pro73fs)	rs1909650741
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)	rs1555604867
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro)	rs1057521065
NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)	rs1597985462

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