ClinVar Miner

List of variants reported as pathogenic by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) rs782800778 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_005535.3(IL12RB1):c.1791+2T>G rs554063682 0.00006
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly) rs140059558 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) rs752596663 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736 0.00003
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter) rs1050823116 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter) rs935792706 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) rs1131691593 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000089.4(COL1A2):c.432+4_432+7del rs72656363
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000271.5(NPC1):c.2130+1G>A rs2058753286
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA rs1555375711
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000316.3(PTH1R):c.611T>A (p.Val204Glu) rs769180471
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp) rs888909415
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) rs1585617108
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) rs1554034434
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001010874.5(TECRL):c.331+1G>A rs1057517699
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter) rs2093650935
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter) rs1580059038
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) rs1561540623
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) rs1554265316
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter) rs372127610
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001626.6(AKT2):c.49G>A (p.Glu17Lys) rs387906659
NM_001673.5(ASNS):c.1137+1G>A rs1791383191
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) rs57590980
NM_002354.3(EPCAM):c.499dup (p.Gln167fs) rs606231204
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004750.5(CRLF1):c.983dup (p.Ser328fs) rs1555758035
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005522.5(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) rs1571575523
NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) rs769917456
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly) rs587777512
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) rs104893720
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr) rs1554486894
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006929.5(SKIC2):c.3561_3581del (p.Ser1189_Leu1195del) rs1582192007
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter) rs2034195603
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs) rs1863269109
NM_016341.4(PLCE1):c.3058C>T (p.Gln1020Ter) rs895782232
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs) rs1057519017
NM_017721.5(CC2D1A):c.748+1G>T rs876657679
NM_017755.6(NSUN2):c.1020del (p.Gly341fs) rs1579368865
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017946.4(FKBP14):c.197+5_197+8del rs747353360
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter) rs569240271
NM_022167.4(XYLT2):c.520del (p.Ala174fs) rs797044807
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) rs749688157
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter) rs1292516576
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) rs969835605
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_138272.3(MPIG6B):c.149dup (p.Ala52fs) rs1807027560
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_138638.5(CFL2):c.338del (p.Ser113fs) rs1594784544
NM_145207.3(AFG2A):c.1741A>T (p.Lys581Ter) rs1725521831
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_207037.2(TCF12):c.1035+5G>A rs878853094
NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs) rs1968005848

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