ClinVar Miner

List of variants in gene FKRP reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_024301.5(FKRP):c.-195A>G rs1057523991
NM_024301.5(FKRP):c.-197C>T rs941872245
NM_024301.5(FKRP):c.-206G>T
NM_024301.5(FKRP):c.-246A>G rs181509391
NM_024301.5(FKRP):c.-2C>A rs781231882
NM_024301.5(FKRP):c.-30G>A rs765025603
NM_024301.5(FKRP):c.-34C>T rs3201779
NM_024301.5(FKRP):c.-39-15G>A rs531709071
NM_024301.5(FKRP):c.-39-16C>T rs115257841
NM_024301.5(FKRP):c.-39-243A>G
NM_024301.5(FKRP):c.-40+8C>G rs36215245
NM_024301.5(FKRP):c.-52_-50del rs36215246
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195
NM_024301.5(FKRP):c.1176C>T (p.Phe392=) rs768236258
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568
NM_024301.5(FKRP):c.1191G>T (p.Ala397=) rs752767486
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) rs779487099
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.1317G>A (p.Val439=) rs757615255
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.5(FKRP):c.1394A>C (p.Tyr465Ser) rs1057520772
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
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.264C>A (p.Tyr88Ter) rs1057520771
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.5(FKRP):c.345G>A (p.Ser115=)
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638
NM_024301.5(FKRP):c.375T>C (p.Phe125=)
NM_024301.5(FKRP):c.399G>T (p.Ala133=) rs1057524539
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) rs766747690
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe) rs1226848053
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.5(FKRP):c.573C>T (p.Cys191=) rs763156437
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192
NM_024301.5(FKRP):c.621C>T (p.Leu207=) rs1057522134
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812
NM_024301.5(FKRP):c.651G>A (p.Pro217=) rs1057522308
NM_024301.5(FKRP):c.66C>T (p.Phe22=) rs995818740
NM_024301.5(FKRP):c.717C>T (p.Thr239=) rs762375285
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.5(FKRP):c.741G>A (p.Pro247=) rs1488332243
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.948C>T (p.Pro316=) rs945877846
NM_024301.5(FKRP):c.957_958delinsAA (p.Arg320Ser) rs1555738880
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678

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