ClinVar Miner

List of variants in gene FKRP reported as likely pathogenic for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) rs1057520771 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 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.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs) rs1384878260
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser) rs2122636612
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln) rs2122609879
NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_024301.5(FKRP):c.511_523del (p.Leu171fs) rs1314297056
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.668_669del (p.Phe223fs)
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.74_80del (p.Ser25fs)
NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter) rs886043401
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)

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