ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City and "likely pathogenic" from any submitter

Minimum review status of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 92
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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_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
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_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
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_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
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_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_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 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_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_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 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_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001164277.2(SLC37A4):c.985+1G>A rs1943553565
NM_001174089.2(SLC4A11):c.2018+1G>A rs2067654837
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser) rs121918104
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438

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