ClinVar Miner

List of variants in gene RPGRIP1L reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1581+162G>C rs72803648 0.02744
NM_015272.5(RPGRIP1L):c.3701+90G>A rs147132440 0.01848
NM_015272.5(RPGRIP1L):c.632+258G>A rs146320462 0.01223
NM_015272.5(RPGRIP1L):c.3616+77G>A rs74018105 0.01115
NM_015272.5(RPGRIP1L):c.632+291G>A rs142351387 0.00960
NM_015272.5(RPGRIP1L):c.776+89T>C rs72803655 0.00885
NM_015272.5(RPGRIP1L):c.3835+323C>T rs11862484 0.00787
NM_015272.5(RPGRIP1L):c.1244-78G>A rs115739140 0.00699
NM_015272.5(RPGRIP1L):c.2304+304T>C rs189252764 0.00699
NM_015272.5(RPGRIP1L):c.883-198T>C rs138067503 0.00691
NM_015272.5(RPGRIP1L):c.2153-110C>T rs11859403 0.00581
NM_015272.5(RPGRIP1L):c.3221-38T>C rs11860764 0.00566
NM_015272.5(RPGRIP1L):c.2152+171A>G rs140672076 0.00555
NM_015272.5(RPGRIP1L):c.1582-305A>C rs111274730 0.00475
NM_015272.5(RPGRIP1L):c.882+140T>C rs189766524 0.00406
NM_015272.5(RPGRIP1L):c.1244-173T>A rs149754212 0.00347
NM_015272.5(RPGRIP1L):c.2304+285G>A rs192285320 0.00346
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_015272.5(RPGRIP1L):c.883-50A>C rs140246925 0.00244
NM_015272.5(RPGRIP1L):c.530-51C>A rs148326584 0.00221
NM_015272.5(RPGRIP1L):c.777-290A>T rs79980281 0.00204
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_015272.5(RPGRIP1L):c.1030-50A>C rs201831442 0.00185
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_015272.5(RPGRIP1L):c.-7-38T>C rs148157252 0.00102
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027 0.00092
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015272.5(RPGRIP1L):c.3300C>T (p.Leu1100=) rs190706759 0.00077
NM_015272.5(RPGRIP1L):c.2684-40C>T rs117194361 0.00065
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.231-33A>G rs189750129 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.-28A>T rs933419557 0.00006
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542 0.00006
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=) rs758547965 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.1104-247del rs376487101
NM_015272.5(RPGRIP1L):c.1581+194dup rs991639713
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.883-32_883-30del rs201808974

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