List of variants reported as likely pathogenic for Batten-Turner congenital myopathy

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1393G>T (p.Val465Phe)	rs139158852
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp)	rs772027125
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)	rs780150093
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	rs121908552

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