ClinVar Miner

List of variants in gene GH-LCR, SCN4A studied for Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	rs80338792	0.00001

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