ClinVar Miner

List of variants reported as likely benign for Retinitis Pigmentosa, Dominant

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014748.4(SNX17):c.*653G>A rs13472 0.37643
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_002098.6(GUCA1B):c.*1318G>A rs1997980 0.19007
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_002098.6(GUCA1B):c.*457A>G rs9471797 0.08647
NM_002098.6(GUCA1B):c.*220A>G rs3749920 0.07278
NM_002098.6(GUCA1B):c.*503G>A rs13211352 0.05737
NM_006269.1(RP1):c.-154T>C rs74632105 0.04591
NM_013342.4(TFPT):c.-194G>A rs75629461 0.02868
NM_002098.6(GUCA1B):c.*480G>A rs113734032 0.02758
NM_001384910.1(GUCA1A):c.*479C>T rs6899575 0.02610
NM_002098.6(GUCA1B):c.*429G>A rs114573886 0.02273
NM_002098.6(GUCA1B):c.*488C>T rs7764586 0.02085
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_002098.6(GUCA1B):c.*295G>A rs73733110 0.01608
NM_002098.6(GUCA1B):c.*433A>G rs140024841 0.01581
NM_002098.6(GUCA1B):c.*477C>T rs143063040 0.01574
NM_002098.6(GUCA1B):c.*1088G>C rs76451756 0.01569
NM_002098.6(GUCA1B):c.*1126A>G rs115180990 0.01569
NM_002098.6(GUCA1B):c.*1203T>C rs75437254 0.01565
NM_002098.6(GUCA1B):c.*928A>G rs114824449 0.01564
NM_002098.6(GUCA1B):c.*666G>T rs140229339 0.01415
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_012469.3(PRPF6):c.-119G>A rs115265032 0.01259
NM_013342.4(TFPT):c.-127G>A rs117225554 0.01242
NM_002098.6(GUCA1B):c.*618G>A rs150308756 0.01146
NM_001384910.1(GUCA1A):c.*76C>A rs76792280 0.01120
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NR_148338.1(LOC107986845):n.884G>A rs183121204 0.00938
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00841
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_002098.6(GUCA1B):c.*581G>A rs138314395 0.00660
NM_001384910.1(GUCA1A):c.*345G>A rs115636833 0.00658
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_001384910.1(GUCA1A):c.*331A>G rs45553838 0.00510
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_001384910.1(GUCA1A):c.*415C>T rs182201426 0.00439
NM_004698.3(PRPF3):c.-133A>G rs3767630 0.00352
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00302
NM_014014.5(SNRNP200):c.*497_*498dup rs148352926 0.00265
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_001384910.1(GUCA1A):c.*10C>A rs367804008 0.00048
NM_000717.4(CA4):c.-76G>C rs543743714 0.00006
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000554.6(CRX):c.*1654dup rs138321430
NM_005802.5(TOPORS):c.*139del rs140010425
NM_005802.5(TOPORS):c.*362del rs34721491
NM_005802.5(TOPORS):c.*733_*737del rs201977387
NM_006269.2(RP1):c.*260_*261dup rs10654889
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*1568G>A rs11869066

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