ClinVar Miner

List of variants in gene FKRP reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108 0.00009
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) rs886042998 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.187G>A (p.Val63Met) rs955514933 0.00002
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) rs752018916 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192 0.00002
NM_024301.5(FKRP):c.*10A>G rs1568420774 0.00001
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.1137G>T (p.Arg379=) rs761782258 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) rs754002921 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092 0.00001
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) rs1057520771 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.466G>A (p.Val156Met) rs765402738 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 0.00001
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) rs886044590 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg) rs886042921 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
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.1087G>T (p.Val363Leu) rs886043075
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) rs771793862
NM_024301.5(FKRP):c.1141del (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) rs886043959
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) rs886042367
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) rs886042793
NM_024301.5(FKRP):c.1323T>G (p.Phe441Leu) rs886044520
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
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.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.613C>T (p.Arg205Cys) rs753297636
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) rs794727652
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.729G>A (p.Ala243=) rs794727651
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.738_749del (p.Pro247_Thr250del) rs886044496
NM_024301.5(FKRP):c.740del (p.Pro247fs) rs1568418845
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.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.892G>C (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
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.970G>T (p.Glu324Ter) rs886044183

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