ClinVar Miner

List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by Dr. med. U. Finckh, Human Genetics, Eurofins MVZ

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1064+1G>A
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
NM_000083.3(CLCN1):c.562+1G>C	rs2116837885
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707

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