ClinVar Miner

List of variants in gene FKRP reported as benign for Walker-Warburg congenital muscular dystrophy

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812

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