ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as pathogenic for SCN4A-Related Disorders

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334

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