ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter) rs201286463 0.00007
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00005
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001379270.1(CNGA1):c.1003_1007del (p.Asn334_Asp335insTer) rs910102517 0.00004
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00003
NM_005869.4(CWC27):c.495G>A (p.Glu165=) rs1085307446 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His) rs1489149705 0.00002
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000326.5(RLBP1):c.141G>A (p.Lys47=) rs766278489 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000350.3(ABCA4):c.1239+1G>C rs765707028 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr) rs148234178 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526 0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433 0.00001
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00001
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588 0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del
NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del
NC_000006.11:g.(65098734_65146066)_(65149246_65300115)del
NC_000006.11:g.(65149246_65300115)_(66417120_?)del
NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del
NC_000006.11:g.(65532716_65596589)_(65707597_65767506)del
NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del
NC_000006.11:g.(66054071_66063350)_(66205501_66205751)del
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer) rs2523832753
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.3364G>T (p.Glu1122Ter)
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4383G>A (p.Trp1461Ter) rs1347261858
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg) rs1242866408
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) rs1191816747
NM_000350.3(ABCA4):c.95CTTTAT[1] (p.Ser34_Leu35del) rs745925619
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001142800.2(EYS):c.2308C>T (p.Gln770Ter) rs992863438
NM_001142800.2(EYS):c.4615dup (p.Thr1539fs) rs2533153113
NM_001142800.2(EYS):c.492_499del (p.Leu165fs) rs1270977202
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro) rs1186771860
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs) rs1768352761
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter) rs549784796
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs) rs928348793
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001242957.3(MAK):c.685del (p.Gln229fs)
NM_001297.5(CNGB1):c.160_161delinsA (p.Pro54fs)
NM_001379270.1(CNGA1):c.298G>T (p.Glu100Ter)
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly) rs774102273
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs) rs2507421825
NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter) rs1253188873
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109

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