ClinVar Miner

List of variants reported as pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

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ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) rs59088485 0.00096
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) rs397514482 0.00003
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378 0.00001
NM_001567.4(INPPL1):c.768_769del (p.Glu258fs) rs746647683 0.00001
NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys) rs878853117 0.00001
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr) rs376927697 0.00001
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys) rs1085307981 0.00001
NM_005787.6(ALG3):c.611C>T (p.Ala204Val) rs1719034314 0.00001
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro) rs1423328264 0.00001
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter) rs1023520147 0.00001
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp) rs373514167 0.00001
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
NC_000017.11:g.8113975_8119273delinsC
NC_000023.10:g.71681853_72434328del752476
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys) rs864309715
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His) rs864309714
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter) rs2062048292
NM_001085458.2(CTNND1):c.2435+1G>T rs2063072465
NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs) rs2061409627
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser) rs878853125
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu) rs878853124
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1546G>C (p.Val516Leu) rs748223349
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.958+2dup rs869312855
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) rs797045178
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys) rs397514480
NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His) rs397514483
NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr) rs387907179
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr) rs878853140
NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile) rs878853139
NM_001378183.1(PIEZO2):c.7007C>T (p.Ser2336Leu) rs878853138
NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met) rs878853137
NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys) rs587777451
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro) rs587777452
NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu) rs587777452
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs) rs878853135
NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro) rs587777454
NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer) rs724159993
NM_001567.3(INPPL1):c.[1687_1691delACCTC;35dupG]
NM_001567.3(INPPL1):c.[2415+1G>A;768_769delAG]
NM_001567.3(INPPL1):c.[24_39del16;753G>C]
NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu) rs397514508
NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp) rs878853123
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter) rs397514509
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe) rs2136500272
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) rs797045176
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.743C>T (p.Thr248Ile) rs1561420103
NM_002317.7(LOX):c.800A>C (p.Gln267Pro) rs886040967
NM_002317.7(LOX):c.839G>T (p.Ser280Ile) rs886040965
NM_002470.4(MYH3):c.3214_3216dup (p.Asn1072dup) rs878853126
NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) rs796051884
NM_002470.4(MYH3):c.724TCC[1] (p.Ser243del) rs1555527166
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]
NM_004826.3(ECEL1):c.[1252C>T;590G>A]
NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]
NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln) rs765430577
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter) rs587776917
NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs) rs878853118
NM_005157.6(ABL1):c.1388G>A (p.Gly463Asp) rs2133017541
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile) rs587776962
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro) rs1085307980
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) rs747953768
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) rs1553827968
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413
NM_006280.3(SSR4):c.317del (p.Phe106fs) rs606231298
NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg) rs387907178
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) rs1042640142
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_052867.4(NALCN):c.1526T>C (p.Leu509Ser) rs786203987
NM_052867.4(NALCN):c.1534T>G (p.Phe512Val) rs878853132
NM_052867.4(NALCN):c.1538C>A (p.Thr513Asn) rs878853131
NM_052867.4(NALCN):c.1733A>C (p.Tyr578Ser) rs786203988
NM_052867.4(NALCN):c.1768C>T (p.Leu590Phe) rs786203986
NM_052867.4(NALCN):c.3017T>C (p.Val1006Ala) rs878853130
NM_052867.4(NALCN):c.3050T>C (p.Ile1017Thr) rs878853129
NM_052867.4(NALCN):c.3493A>C (p.Thr1165Pro) rs878853128
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.4338T>G (p.Ile1446Met) rs878853127
NM_052867.4(NALCN):c.530A>C (p.Gln177Pro) rs786203984
NM_052867.4(NALCN):c.934C>A (p.Leu312Ile) rs878853134
NM_052867.4(NALCN):c.938T>G (p.Val313Gly) rs786203985
NM_052867.4(NALCN):c.979G>A (p.Glu327Lys) rs878853133
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter) rs1057519597
NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter) rs749232831
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg) rs587777657
NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1]) rs2146131503
NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp) rs2146130979
SLC35A2:c.15_91+48delinsA rs1557044030

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