ClinVar Miner

List of variants in gene FKRP reported as uncertain significance for Limb-girdle muscular dystrophy-dystroglycanopathy, type C5

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Total variants: 24
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HGVS dbSNP
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) rs770195088
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1208del (p.Phe403fs) rs1555739119
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) rs752243337
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261
NM_024301.5(FKRP):c.558_560CGC[3] (p.Ala188dup) rs1555738552
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936

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