ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001

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