List of variants in gene SCN4A reported as pathogenic for not provided

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	rs80338784	0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	rs527236148	0.00001
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)	rs865887222	0.00001
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	rs121908552
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.644T>C (p.Ile215Thr)	rs1555604867

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