ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for Potassium aggravated myotonia

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Total variants: 5
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HGVS dbSNP
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe) rs121908546
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548

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