ClinVar Miner

List of variants in gene FKRP reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_024301.5(FKRP):c.*10A>G rs1568420774
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val) rs1555738924
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
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.1087G>T (p.Val363Leu) rs886043075
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) rs771793862
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
NM_024301.5(FKRP):c.1137G>T (p.Arg379=) rs761782258
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.5(FKRP):c.1236C>T (p.His412=)
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) rs886042793
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921
NM_024301.5(FKRP):c.1323T>G (p.Phe441Leu) rs886044520
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) rs752018916
NM_024301.5(FKRP):c.374T>C (p.Phe125Ser) rs886042355
NM_024301.5(FKRP):c.385G>C (p.Val129Leu) rs747642602
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) rs755588907
NM_024301.5(FKRP):c.401G>C (p.Arg134Pro) rs886042579
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) rs886042998
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.5(FKRP):c.466G>A (p.Val156Met) rs765402738
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433
NM_024301.5(FKRP):c.581T>A (p.Leu194Gln) rs398124393
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.606G>A (p.Leu202=) rs140084192
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) rs753297636
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) rs794727652
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) rs886044590
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954
NM_024301.5(FKRP):c.729G>A (p.Ala243=) rs794727651
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu) rs764641619
NM_024301.5(FKRP):c.737_749delinsG (p.Pro246_Thr250delinsArg) rs886044496
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.5(FKRP):c.749C>G (p.Thr250Arg) rs886044497
NM_024301.5(FKRP):c.760C>T (p.Arg254Cys) rs1568418945
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys) rs1333568893
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg) rs886042921
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880
NM_024301.5(FKRP):c.892G>C (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.5(FKRP):c.962_970dup (p.Ala321_Arg323dup) rs886044307
NM_024301.5(FKRP):c.964C>G (p.Leu322Val) rs794727653
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458

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