ClinVar Miner

List of variants in gene RPGRIP1 studied for not provided

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Gene type:
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Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.907-155G>A rs1957413 0.53826
NM_020366.4(RPGRIP1):c.1077+187T>C rs8021536 0.53798
NM_020366.4(RPGRIP1):c.1762+297T>A rs8008315 0.53140
NM_020366.4(RPGRIP1):c.1468-326A>T rs10131759 0.52450
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_020366.4(RPGRIP1):c.1152-65G>A rs3748357 0.34499
NM_020366.4(RPGRIP1):c.930+26T>C rs1957414 0.30643
NM_020366.4(RPGRIP1):c.1612-185C>T rs3748359 0.29638
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.587+171G>A rs8021748 0.24734
NM_020366.4(RPGRIP1):c.800+220G>A rs7144592 0.24091
NM_020366.4(RPGRIP1):c.800+164G>T rs7140235 0.24040
NM_020366.4(RPGRIP1):c.588-155C>T rs7140589 0.24034
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.3099+243G>A rs7159529 0.21823
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_020366.4(RPGRIP1):c.3618-279T>C rs55797824 0.13577
NM_020366.4(RPGRIP1):c.3617+154A>G rs61695584 0.12733
NM_020366.4(RPGRIP1):c.3533-199C>G rs72684734 0.10318
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.1763-66C>T rs8015319 0.02832
NM_020366.4(RPGRIP1):c.1612-90A>T rs77206434 0.02820
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_020366.4(RPGRIP1):c.3340-77A>G rs78217014 0.02645
NC_000014.9:g.21351305G>C rs45540636 0.02592
NM_020366.4(RPGRIP1):c.1306+203T>C rs12323827 0.02490
NM_020366.4(RPGRIP1):c.3239-185A>T rs17103594 0.02477
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_020366.4(RPGRIP1):c.3099+31T>C rs114936974 0.02431
NM_020366.4(RPGRIP1):c.3618-118G>A rs79387178 0.02314
NM_020366.4(RPGRIP1):c.3749-218_3749-216del rs1232302776 0.02284
NM_020366.4(RPGRIP1):c.3749-221_3749-220insGAT rs1176689770 0.02284
NM_020366.4(RPGRIP1):c.86-265T>C rs145863059 0.02240
NM_020366.4(RPGRIP1):c.587+277T>C rs377115691 0.01881
NM_020366.4(RPGRIP1):c.800+251C>T rs34295767 0.01738
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_020366.4(RPGRIP1):c.1151+50T>G rs8022247 0.01217
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_020366.4(RPGRIP1):c.3644C>T (p.Pro1215Leu) rs1295657393 0.00018
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00016
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=) rs375546482 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_020366.4(RPGRIP1):c.1588C>T (p.Arg530Cys) rs373592510 0.00005
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=) rs201639860 0.00004
NM_020366.4(RPGRIP1):c.270C>T (p.Val90=) rs201269438 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2173C>G (p.Leu725Val) rs755791291 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=) rs398124355 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile) rs759191514 0.00001
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.1078-1G>A
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1151+200del rs202128771
NM_020366.4(RPGRIP1):c.128G>C (p.Arg43Pro) rs762187880
NM_020366.4(RPGRIP1):c.1525C>T (p.Gln509Ter) rs61751267
NM_020366.4(RPGRIP1):c.1589G>A (p.Arg530His) rs367767674
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.4(RPGRIP1):c.1612-219G>A rs3748358
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1621G>T (p.Glu541Ter)
NM_020366.4(RPGRIP1):c.1692A>G (p.Leu564=)
NM_020366.4(RPGRIP1):c.1707T>G (p.Asn569Lys) rs61751273
NM_020366.4(RPGRIP1):c.1948C>T (p.Pro650Ser) rs1740380459
NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter) rs62646878
NM_020366.4(RPGRIP1):c.1967A>G (p.Tyr656Cys)
NM_020366.4(RPGRIP1):c.1978G>T (p.Asp660Tyr) rs483352751
NM_020366.4(RPGRIP1):c.2040C>T (p.Ser680=)
NM_020366.4(RPGRIP1):c.218+2T>A
NM_020366.4(RPGRIP1):c.218+40_218+53del
NM_020366.4(RPGRIP1):c.218+43_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+44_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+45_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+46_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+47_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+51_218+53dup rs746359185
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.2504A>G (p.Asp835Gly) rs749361825
NM_020366.4(RPGRIP1):c.2565_2566insTT (p.Leu856fs) rs61751269
NM_020366.4(RPGRIP1):c.2568T>C (p.Leu856=) rs794727175
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_020366.4(RPGRIP1):c.2627A>G (p.Asp876Gly) rs61751274
NM_020366.4(RPGRIP1):c.2640dup (p.Glu881fs) rs2139237156
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) rs780587095
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs) rs1555302659
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) rs786205623
NM_020366.4(RPGRIP1):c.2895+2T>C
NM_020366.4(RPGRIP1):c.3239-1_3241del rs1884133804
NM_020366.4(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.3532+243G>C rs10438064
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.4(RPGRIP1):c.3617+191TTAT[8] rs139819474
NM_020366.4(RPGRIP1):c.3628_3629insG (p.Thr1210fs) rs61751272
NM_020366.4(RPGRIP1):c.3647T>C (p.Leu1216Pro) rs749051039
NM_020366.4(RPGRIP1):c.3649G>A (p.Asp1217Asn) rs886044548
NM_020366.4(RPGRIP1):c.3686C>G (p.Ala1229Gly) rs2139366146
NM_020366.4(RPGRIP1):c.3746A>G (p.Asp1249Gly) rs767010058
NM_020366.4(RPGRIP1):c.3749-202G>T rs6571770
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.473C>G (p.Pro158Arg)
NM_020366.4(RPGRIP1):c.491-144del rs11311589
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) rs61751265
NM_020366.4(RPGRIP1):c.587+272del rs71419125
NM_020366.4(RPGRIP1):c.676dup (p.Ile226fs) rs1881125294
NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=) rs398124356
NM_020366.4(RPGRIP1):c.800G>T (p.Arg267Leu)
NM_020366.4(RPGRIP1):c.821T>G (p.Val274Gly) rs927347968
NM_020366.4(RPGRIP1):c.837T>C (p.Leu279=) rs751301091
NM_020366.4(RPGRIP1):c.85+5C>A rs1594369617
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_020366.4(RPGRIP1):c.931-278AATA[5] rs35635981

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