ClinVar Miner

List of variants reported as pathogenic by SIB Swiss Institute of Bioinformatics

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ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) rs137853086 0.00021
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter) rs121917847 0.00003
NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn) rs201229537 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_005956.4(MTHFD1):c.673G>T (p.Glu225Ter) rs760889414 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) rs746141726 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652 0.00001
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) rs771622183 0.00001
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser) rs768180196 0.00001
NM_006265.3(RAD21):c.1864G>A (p.Ala622Thr) rs775266057 0.00001
NM_007186.6(CEP250):c.361C>T (p.Arg121Ter) rs1341298773 0.00001
NM_007186.6(CEP250):c.562C>T (p.Arg188Ter) rs1369076411 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter) rs1564745688 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_016034.5(MRPS2):c.328C>T (p.Arg110Cys) rs761334309 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter) rs941713150 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) rs760451348 0.00001
NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter) rs398123014 0.00001
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter) rs398123013 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn) rs1554571213
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter) rs1567632864
NM_001083619.3(GRIA2):c.1939G>C (p.Val647Leu) rs765072736
NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) rs2134626266
NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter) rs1554709792
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) rs982121798
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) rs376598954
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) rs1568940507
NM_001321967.2(ATAD1):c.826G>T (p.Glu276Ter) rs1554874859
NM_001353345.2(SETD1B):c.2932C>T (p.Gln978Ter) rs1876334453
NM_001353345.2(SETD1B):c.3964C>T (p.Gln1322Ter) rs1876610129
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys) rs1876922399
NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu) rs1554186441
NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly) rs1768050305
NM_001387263.1(PATL2):c.558T>A (p.Tyr186Ter) rs752734259
NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter) rs1556022644
NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter) rs1556022641
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) rs1563340753
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635
NM_002430.3(MN1):c.1415C>A (p.Ser472Ter) rs1933378166
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter) rs1601319598
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser) rs1597488038
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619
NM_002715.4(PPP2CA):c.373C>T (p.Gln125Ter) rs1561734790
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter) rs2095916574
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) rs1595387492
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) rs776935608
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) rs1045076800
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) rs267607138
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) rs1584666961
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter) rs1431963909
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter) rs1665467473
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_006390.4(IPO8):c.82C>T (p.Gln28Ter) rs2053331144
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter) rs1568003569
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) rs1567844041
NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) rs1567844114
NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) rs1567758622
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter) rs1567920106
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) rs1567920209
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) rs138247472
NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) rs1555644480
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) rs730882252
NM_006888.6(CALM1):c.422A>G (p.Glu141Gly) rs1887120112
NM_006888.6(CALM1):c.422A>T (p.Glu141Val) rs1887120112
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) rs199744595
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys) rs1746763024
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_007118.4(TRIO):c.4406A>G (p.His1469Arg) rs1554070777
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val) rs1554577402
NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala) rs1554022725
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020719.3(PRR12):c.1521T>G (p.Tyr507Ter) rs1186740723
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.2755C>T (p.Gln919Ter) rs2080776854
NM_020719.3(PRR12):c.3958C>T (p.Arg1320Ter) rs2122309575
NM_020719.3(PRR12):c.790C>T (p.Gln264Ter) rs2080756986
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter) rs1050086118
NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter) rs1588023668
NM_020944.3(GBA2):c.518G>A (p.Trp173Ter) rs1588022768
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_025103.4(IFT74):c.256G>A (p.Gly86Ser) rs2131525662
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys) rs2135938300
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer) rs767723684
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr) rs1598595659
NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter) rs1554076309
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930

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