ClinVar Miner

List of variants reported as pathogenic by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro) rs147948789 0.00061
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp) rs373804633 0.00007
NM_001673.5(ASNS):c.1211G>A (p.Arg404His) rs774808316 0.00004
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser) rs764942670 0.00002
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_153209.4(KIF19):c.788G>A (p.Arg263His) rs538632717 0.00002
NM_174912.4(FAAH2):c.1175G>A (p.Trp392Ter) rs1333565102 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_000618.5(IGF1):c.292C>T (p.Arg98Trp) rs587779350 0.00001
NM_001077418.3(TMEM231):c.316G>A (p.Glu106Lys) rs2080685279 0.00001
NM_001198800.3(ASCC1):c.871+1G>A rs763845791 0.00001
NM_001931.5(DLAT):c.975G>A (p.Pro325=) rs1432866316 0.00001
NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu) rs755601885 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) rs762482919 0.00001
NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter) rs1178162893 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NC_000002.11:g.(215928788_?)del
NC_000012.11:g.113120652_115362584del
NC_000013.10:g.99162946_101376965del
NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del
NC_000018.9:g.43547114_43604673del
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs) rs587779349
NM_000126.4(ETFA):c.*27_*30del rs2142101078
NM_000213.5(ITGB4):c.3793+1G>C rs147222357
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
NM_000286.3(PEX12):c.308dup (p.Leu103fs) rs61752101
NM_000308.4(CTSA):c.595del (p.Leu199fs) rs786205670
NM_000400.4(ERCC2):c.1997G>A (p.Arg666Gln) rs1971845337
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATACTTTCCTCCTTTTACCCTATACAACATTGATTT rs2126689896
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) rs2116220949
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) rs1281995042
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000537.4(REN):c.299_300del (p.Lys100fs) rs2102314045
NM_001012759.3(CTU2):c.1206dup (p.Ala403fs) rs1597434884
NM_001012759.3(CTU2):c.1514_1517del (p.Ile505fs) rs779980669
NM_001012759.3(CTU2):c.282+5G>A rs1351549465
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001077365.2(POMT1):c.1175+3del rs2131708682
NM_001077418.3(TMEM231):c.665-11T>C rs886039807
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079866.2(BCS1L):c.441C>T (p.Phe147=) rs2106324466
NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs) rs2136171586
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del) rs2135826994
NM_001089.3(ABCA3):c.3235C>T (p.Gln1079Ter) rs2141696548
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter) rs1567760022
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs) rs2069070395
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter) rs1484029774
NM_001164508.2(NEB):c.16909-1G>A rs2153806528
NM_001164508.2(NEB):c.20976del (p.Val6993fs) rs1559680233
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001244710.2(GFPT1):c.686-1G>A rs2104647624
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp) rs886536075
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del
NM_001353812.2(ATP11C):c.1666+2T>C rs2148723294
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer) rs2148837382
NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys) rs1860716899
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs) rs1674946144
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln) rs2122975686
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.11514-1G>A rs2150047294
NM_001384125.1(BLTP1):c.12331G>T (p.Glu4111Ter) rs1787740370
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_002444.3(MSN):c.1056del (p.Lys352fs) rs2147518591
NM_002474.3(MYH11):c.1033+1G>A rs112534511
NM_002772.3(TMPRSS15):c.2808_2809insATCA (p.Ser937fs) rs2146856395
NM_003560.4(PLA2G6):c.1125del (p.Val376fs) rs2145753620
NM_003611.3(OFD1):c.1246del (p.Gln416fs) rs886039813
NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp) rs757375034
NM_004035.7(ACOX1):c.431-1G>A rs773710550
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs) rs2140115541
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) rs2056449254
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) rs2140131376
NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs) rs1565858163
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006642.5(SDCCAG8):c.741-152G>A rs2072310236
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter) rs921785357
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_012464.5(TLL1):c.1379-2A>G rs1579663872
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014425.5(INVS):c.753T>G (p.Tyr251Ter) rs2118494165
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_015231.3(NUP160):c.1077+5G>A rs2135385033
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) rs2149323575
NM_015910.7(WDPCP):c.2078+1G>T rs1673664656
NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro) rs2139646713
NM_016464.5(TMEM138):c.377-3C>G rs774110963
NM_017714.3(TASP1):c.701C>T (p.Thr234Met) rs904200599
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.1126dup (p.Thr376fs) rs2143753386
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) rs1297300713
NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs) rs2137097782
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) rs886039798
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter) rs2143756208
NM_024753.5(TTC21B):c.1176_1185+1del rs1686809735
NM_024926.4(IFT56):c.4-1G>C rs2130770516
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter) rs886039808
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser) rs2125700641
NM_033028.4:r.[118_261del;118_373del]
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) rs886039802
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_080680.3(COL11A2):c.1871dup (p.Gly625fs) rs1455983505
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp) rs2102489248
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs) rs2108843144
NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys) rs1555863623
NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser) rs2075090666
NM_152773.5(DYNLT2B):c.317+4A>T rs886039815
NM_153033.5(KCTD7):c.696del (p.Phe232fs) rs2116775509
NM_153209.4(KIF19):c.1906T>G (p.Tyr636Asp) rs777983592
NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter) rs1265664823
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_174916.3(UBR1):c.4054-2A>G rs780491123
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs) rs1725961307
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs) rs1725388372
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys) rs1350475816
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter) rs998162536
NM_198428.3(BBS9):c.2115+1G>A rs886039801
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198428.3(BBS9):c.956del (p.Thr319fs) rs886039799
NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) rs2138066721

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