ClinVar Miner

List of variants reported as pathogenic by Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital

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ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) rs121908085 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_021147.5(CCNO):c.307C>T (p.Gln103Ter) rs746493440 0.00004
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_018129.4(PNPO):c.364-1G>A rs774710082 0.00002
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) rs267606751 0.00002
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000330.4(RS1):c.185-3090_185-3089insT rs1158418673 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_001080467.3(MYO5B):c.2062C>T (p.Arg688Ter) rs1014035512 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter) rs121912601 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_198239.2(CCN6):c.707del (p.Ser236fs) rs1583586843 0.00001
NC_000009.11:g.(?_139018777)_(141018984_?)del
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000080.4(CHRNE):c.967_968insCTCACAGGGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCAG (p.Val323fs)
NM_000091.5(COL4A3):c.3752-2A>C
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000138.5(FBN1):c.3350G>T (p.Cys1117Phe)
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000214.3(JAG1):c.1052del (p.Cys351fs)
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) rs2102403618
NM_000232.5(SGCB):c.622-1G>C rs2109370093
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000256.3(MYBPC3):c.2148+1G>A rs1060499604
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter) rs1554269891
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000883.4(IMPDH1):c.942G>C (p.Lys314Asn)
NM_001001547.2:c.(?_-183)_(120_?)del
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs) rs748431584
NM_001002029.3:c.(?_3231)_(3387_?)del
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001013838.3(CARMIL2):c.950dup (p.Pro318fs)
NM_001023570.4(IQCB1):c.1130-1G>C
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) rs2150368246
NM_001029896.2(WDR45):c.616del (p.Thr205_Val206insTer)
NM_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter) rs2128469727
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter) rs2066138676
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001080442.3(SLC38A8):c.116del (p.Gly39fs) rs2151131708
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001122630.2(CDKN1C):c.670C>T (p.Gln224Ter) rs483352989
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs) rs758020565
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
NM_001190787.3(MCIDAS):c.607-1G>T
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs)
NM_001242896.3(DEPDC5):c.1093_1103del (p.Asp365fs)
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_001355436.2(SPTB):c.1628G>A (p.Trp543Ter)
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter) rs781213892
NM_001374828.1(ARID1B):c.4479+1G>T rs1554235041
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001384732.1(CPLANE1):c.8959-2A>G
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002461.3(MVD):c.141+1del rs2142906391
NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys) rs1315638826
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3:c.(?_6439-1)_(8217+1_?)del
NM_004006.3:c.(?_7310-1)_(8217+1_?)del
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_005249.5(FOXG1):c.695A>C (p.Asn232Thr)
NM_005807.6(PRG4):c.1320dup (p.Lys441fs) rs1557943002
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006929.5(SKIC2):c.2341-1G>T rs1772848223
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter) rs1268684924
NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp) rs1584251938
NM_017780.4(CHD7):c.4120_4121dup (p.Asn1374fs) rs2150777291
NM_017780.4(CHD7):c.5677G>T (p.Glu1893Ter) rs2150807513
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_021147.5(CCNO):c.259_268dup (p.Val90fs) rs1398588555
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024685.4(BBS10):c.804_805del (p.Ser269fs) rs1472533012
NM_032603.5(LOXL3):c.449delinsAA (p.Pro150fs)
NM_052988.5(CDK10):c.608+1G>A rs771066826
NM_053274.3(GLMN):c.1406_1409del (p.Asp469fs)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_138691.3(TMC1):c.846dup (p.Met283fs)
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs) rs2141698833
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_153704.6(TMEM67):c.223+1G>T
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_183381.3(RNF13):c.901G>T (p.Glu301Ter)
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_199342.4(SVBP):c.82C>T (p.Gln28Ter) rs1570520175
NM_203447.4(DOCK8):c.4241+1G>A rs2131649330
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
UGT1A1*28 rs3064744

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