List of variants in gene SCN4A reported as benign for potassium-aggravated myotonia

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_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)	rs6504191	0.91477
NM_000334.4(SCN4A):c.864C>T (p.Asn288=)	rs7218917	0.06188
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)	rs41280108	0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)	rs16947296	0.03818
NM_000334.4(SCN4A):c.726C>T (p.Ala242=)	rs73326368	0.01791
NM_000334.4(SCN4A):c.489C>G (p.Thr163=)	rs146590697	0.00848
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln)	rs111926172	0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu)	rs112142736	0.00506
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.1100+7G>A	rs200770684	0.00212
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)	rs372791798	0.00112
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)	rs185941768	0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	rs199676994	0.00059
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)	rs149726115	0.00056
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)	rs185246154	0.00044
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)	rs148028364	0.00042
NM_000334.4(SCN4A):c.1845+7A>C	rs141021600	0.00028
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)	rs201199086	0.00026
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)	rs182691342	0.00021
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)	rs147936148	0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)	rs149907018	0.00011
NM_000334.4(SCN4A):c.-33C>T	rs575313119	0.00010
NM_000334.4(SCN4A):c.1100+15G>A	rs533321924	0.00010
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)	rs766463226	0.00009
NM_000334.4(SCN4A):c.-74G>A	rs546675124	0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)	rs527384137	0.00004
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)	rs189925781	0.00003
NM_000334.4(SCN4A):c.483-5C>A	rs191547933
NM_000334.4(SCN4A):c.483-9C>A	rs201552497
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)	rs78592515

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