ClinVar Miner

List of variants in gene RPGRIP1L reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.3432+271T>C rs4312301 0.99318
NM_015272.5(RPGRIP1L):c.1401+292G>A rs4290466 0.82612
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.3836-309G>A rs4784321 0.33006
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_015272.5(RPGRIP1L):c.1243+106A>G rs5005161 0.21303
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_015272.5(RPGRIP1L):c.1700-181G>A rs9889127 0.10996
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_015272.5(RPGRIP1L):c.1029+88G>A rs35526952 0.08215
NM_015272.5(RPGRIP1L):c.530-280G>A rs74018186 0.06895
NM_015272.5(RPGRIP1L):c.530-200C>T rs62048362 0.06014
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.1700-212G>A rs62050412 0.04846
NM_015272.5(RPGRIP1L):c.3221-217C>T rs80247559 0.04698
NM_015272.5(RPGRIP1L):c.776+221G>A rs11075982 0.04678
NM_015272.5(RPGRIP1L):c.1401+88G>A rs12598634 0.04675
NM_015272.5(RPGRIP1L):c.2152+139T>C rs12445128 0.04666
NM_015272.5(RPGRIP1L):c.2959-265A>G rs77511317 0.04666
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_015272.5(RPGRIP1L):c.1243+67G>A rs4133018 0.04660
NM_015272.5(RPGRIP1L):c.2304+91C>T rs12600091 0.04654
NM_015272.5(RPGRIP1L):c.529+64C>A rs76665976 0.04425
NM_015272.5(RPGRIP1L):c.2305-179A>G rs61488183 0.02772
NM_015272.5(RPGRIP1L):c.1581+162G>C rs72803648 0.02744
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_015272.5(RPGRIP1L):c.3701+90G>A rs147132440 0.01848
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
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.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_015272.5(RPGRIP1L):c.3835+323C>T rs11862484 0.00787
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
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.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
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.1340T>C (p.Leu447Ser) rs138155747 0.00322
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.1156A>G (p.Lys386Glu) rs137982921 0.00094
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.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590 0.00060
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.3323G>A (p.Cys1108Tyr) rs919333754 0.00046
NM_015272.5(RPGRIP1L):c.74G>T (p.Gly25Val) rs143515432 0.00038
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631 0.00033
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.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr) rs147734438 0.00026
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val) rs147046186 0.00026
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys) rs374860980 0.00015
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222 0.00014
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile) rs141838831 0.00014
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile) rs138383101 0.00011
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser) rs202124667 0.00008
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829 0.00007
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn) rs138777811 0.00007
NM_015272.5(RPGRIP1L):c.-28A>T rs933419557 0.00006
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro) rs150099624 0.00006
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542 0.00006
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn) rs766943204 0.00006
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys) rs527539036 0.00006
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly) rs752128105 0.00004
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=) rs376335724 0.00004
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) rs902687917 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=) rs145807002 0.00004
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp) rs369055168 0.00004
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala) rs202201818 0.00003
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His) rs374157187 0.00003
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys) rs766404857 0.00003
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg) rs780023355 0.00003
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.3355C>T (p.Arg1119Cys) rs1030543863 0.00003
NM_015272.5(RPGRIP1L):c.529+17G>A rs754295905 0.00003
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln) rs549881475 0.00002
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln) rs146484603 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu) rs770032567 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015272.5(RPGRIP1L):c.1700-1G>A rs1057520790 0.00001
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val) rs553739434 0.00001
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter) rs1353551542 0.00001
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys) rs775007896 0.00001
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter) rs1326042797 0.00001
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.2899C>T (p.Arg967Cys) rs759942433 0.00001
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp) rs774549370 0.00001
NM_015272.5(RPGRIP1L):c.3476A>G (p.Asn1159Ser) rs1964560874 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.455A>G (p.Asn152Ser) rs1181172841 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.-8+155C>T rs62048369
NM_015272.5(RPGRIP1L):c.1104-247del rs376487101
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1581+194dup rs991639713
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe) rs1307023675
NM_015272.5(RPGRIP1L):c.1820T>C (p.Phe607Ser)
NM_015272.5(RPGRIP1L):c.1904A>G (p.Tyr635Cys)
NM_015272.5(RPGRIP1L):c.2218G>A (p.Asp740Asn) rs755481580
NM_015272.5(RPGRIP1L):c.2304+166_2304+167del rs140498865
NM_015272.5(RPGRIP1L):c.2305-280A>G rs16952410
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu) rs2151082906
NM_015272.5(RPGRIP1L):c.2489T>C (p.Ile830Thr) rs1966505882
NM_015272.5(RPGRIP1L):c.2599GAT[1] (p.Asp868del) rs2151082025
NM_015272.5(RPGRIP1L):c.2643_2671del (p.Asn881fs) rs886041824
NM_015272.5(RPGRIP1L):c.2684-105G>T rs75586284
NM_015272.5(RPGRIP1L):c.2874+3_2874+6del
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3295-9_3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr) rs2150938312
NM_015272.5(RPGRIP1L):c.3713C>T (p.Thr1238Ile) rs1064796997
NM_015272.5(RPGRIP1L):c.3835+185C>A rs77008584
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp) rs987512823
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
NM_015272.5(RPGRIP1L):c.752G>A (p.Arg251Gln)
NM_015272.5(RPGRIP1L):c.777G>A (p.Arg259=) rs1490733899
NM_015272.5(RPGRIP1L):c.882+3A>G rs1969042020
NM_015272.5(RPGRIP1L):c.883-32_883-30del rs201808974
NM_015272.5(RPGRIP1L):c.94dup (p.Thr32fs)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906

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