ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032

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