ClinVar Miner

List of variants in gene FKRP reported as likely benign for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_024301.5(FKRP):c.1008G>C (p.Ala336=) rs748542420
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962
NM_024301.5(FKRP):c.111G>A (p.Arg37=) rs746276490
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.5(FKRP):c.114G>T (p.Gly38=) rs878855079
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) rs369432328
NM_024301.5(FKRP):c.1173C>T (p.Gly391=) rs1277189416
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) rs779487099
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863
NM_024301.5(FKRP):c.1257C>T (p.Pro419=) rs1335867192
NM_024301.5(FKRP):c.1266C>G (p.Pro422=) rs374056230
NM_024301.5(FKRP):c.1317G>A (p.Val439=) rs757615255
NM_024301.5(FKRP):c.1320G>A (p.Glu440=) rs765678360
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) rs759585825
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108
NM_024301.5(FKRP):c.1465C>T (p.Leu489=) rs112819526
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.210C>T (p.Phe70=) rs569336346
NM_024301.5(FKRP):c.312C>T (p.Leu104=) rs1159432554
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) rs781576638
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.5(FKRP):c.444C>T (p.Leu148=) rs1391808700
NM_024301.5(FKRP):c.456C>T (p.Ser152=) rs199714523
NM_024301.5(FKRP):c.516C>T (p.Asn172=) rs970724879
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208
NM_024301.5(FKRP):c.537C>G (p.Thr179=) rs756705086
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742
NM_024301.5(FKRP):c.555C>T (p.Ala185=) rs1057523657
NM_024301.5(FKRP):c.582G>C (p.Leu194=) rs771223960
NM_024301.5(FKRP):c.597G>T (p.Val199=) rs1360004383
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192
NM_024301.5(FKRP):c.654G>A (p.Val218=) rs749320485
NM_024301.5(FKRP):c.699G>A (p.Val233=) rs764527541
NM_024301.5(FKRP):c.717C>T (p.Thr239=) rs762375285
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.750G>T (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.75G>A (p.Ser25=) rs1555738032
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370
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.912G>A (p.Thr304=) rs1301337774
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058

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