ClinVar Miner

List of variants studied for Congenital myotonia, autosomal dominant form by DASA

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525

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