List of variants in gene combination GH-LCR, SCN4A reported as likely benign for Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16

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: 37

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)	rs41280102	0.01003
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)	rs62070884	0.00873
NM_000334.4(SCN4A):c.3720+9G>T	rs9303466	0.00769
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)	rs113277954	0.00347
NM_000334.4(SCN4A):c.3774+7C>T	rs199659791	0.00149
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=)	rs368024629	0.00021
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)	rs372002602	0.00019
NM_000334.4(SCN4A):c.3318+20C>G	rs368263593	0.00017
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=)	rs776552053	0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)	rs375349902	0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=)	rs540328974	0.00009
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)	rs760183656	0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)	rs186181122	0.00008
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)	rs150307926	0.00006
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)	rs773864470	0.00005
NM_000334.4(SCN4A):c.2376+10G>A	rs1194053149	0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)	rs201346556	0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)	rs538968877	0.00004
NM_000334.4(SCN4A):c.3318+15G>A	rs371928013	0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)	rs267604989	0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)	rs372442108	0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)	rs774089795	0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)	rs371104286	0.00003
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)	rs367936207	0.00001
NM_000334.4(SCN4A):c.2853+7C>T	rs760934874	0.00001
NM_000334.4(SCN4A):c.2854-19G>A	rs1280578508	0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)	rs372555830	0.00001
NM_000334.4(SCN4A):c.2990-4T>A	rs1346938988	0.00001
NM_000334.4(SCN4A):c.3720+7G>A	rs553870552	0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)	rs758113478	0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)	rs756370516	0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)	rs766569872	0.00001
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)	rs754110462
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)	rs530640921
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)	rs574892874
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)	rs373804267
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)	rs754357879

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