List of variants in gene SCN4A reported as uncertain significance for Hypokalemic periodic paralysis, type 2

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	rs150158100	0.00005
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg)	rs886053249	0.00004
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)	rs753453769	0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)	rs778661227	0.00003
NM_000334.4(SCN4A):c.-23G>T	rs747406998	0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu)	rs886053250	0.00002
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=)	rs759176062	0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)	rs376538198	0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)	rs779890709	0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)	rs560230431	0.00001
NM_000334.4(SCN4A):c.-67G>A	rs191783461
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp)	rs749394640
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg)	rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)	rs373819078
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met)	rs377620351
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn)	rs1909633732
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr)	rs1909617747
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu)	rs765525226

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