ClinVar Miner

List of variants in gene FKRP studied for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

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Total variants: 9
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HGVS dbSNP
NM_001039885.2(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.4(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.4(FKRP):c.402_403del (p.Ala135Terfs) rs886041004
NM_024301.4(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.4(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.4(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.4(FKRP):c.953G>A (p.Cys318Tyr) rs104894684

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