ClinVar Miner

List of variants reported as likely pathogenic for Walker-Warburg congenital muscular dystrophy

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Total variants: 7
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NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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