ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.2(FKTN):c.370-2A>T
NM_001079802.2(FKTN):c.647+1G>A
NM_006731.2(FKTN):c.780+2T>C rs1588136441
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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