ClinVar Miner

List of variants reported as likely 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
NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.4(FBN1):c.6866G>T (p.Cys2289Phe) rs1566894230
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.4(FBN1):c.813C>G (p.Cys271Trp) rs765692335
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009
NM_000550.3(TYRP1):c.256G>T (p.Asp86Tyr) rs1563851602
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His) rs869320711
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) rs1057519577
NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) rs1057518645
NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) rs1057519578
NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) rs1057519579
NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) rs1057519580
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) rs1060499554
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) rs1057519025
NM_001733.7(C1R):c.869A>G (p.Asp290Gly) rs1057518643
NM_001733.7(C1R):c.890G>A (p.Gly297Asp) rs1057519026
NM_001733.7(C1R):c.899T>C (p.Leu300Pro) rs1057515579
NM_001733.7(C1R):c.902G>C (p.Arg301Pro) rs760277934
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) rs1057519576
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) rs1057518646
NM_001733.7(C1R):c.927C>G (p.Cys309Trp) rs769707492
NM_001734.5(C1S):c.880T>C (p.Cys294Arg) rs886040975
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) rs886040974
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) rs869312826
NM_002470.4(MYH3):c.1934T>G (p.Phe645Cys) rs1567557697
NM_002470.4(MYH3):c.2699del (p.Leu900fs) rs1567556169
NM_002470.4(MYH3):c.724_726TCC[1] (p.Ser243del) rs1555527166
NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) rs566116760
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp) rs749960549
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr) rs547679833
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1300_1302CTT[1] (p.Leu435del) rs1555266475
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_014080.4(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494
NM_014080.4(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_014080.4(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_014080.4(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_014080.4(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452
NM_015058.2(VWA8):c.2451G>A (p.Thr817=) rs372532526
NM_015058.2(VWA8):c.3676-7T>C rs1566417012
NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter) rs370112959
NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu) rs73464952
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716
NM_016011.4(MECR):c.830+2dup rs756421370
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) rs759218713
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789
NM_016513.4(ICK):c.238G>A (p.Glu80Lys) rs868310475
NM_018392.4(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018392.4(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882
NM_025130.4(HKDC1):c.2302C>T (p.Arg768Ter) rs759709025
NM_138927.2:c.999_5013del
NM_138927.3(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.3(SON):c.2365del (p.Ser789fs) rs1555898531
NM_138927.3(SON):c.268del (p.Ser90fs) rs1569050345
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.3(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_138927.3(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.3(SON):c.4055del (p.Pro1352fs) rs1569056484
NM_138927.3(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.3(SON):c.4356_4357CA[1] (p.Thr1453fs)
NM_138927.3(SON):c.4549dup (p.Glu1517fs) rs1569057333
NM_138927.3(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.3(SON):c.4999_5013del (p.Asp1667_Asn1671del) rs1569058041
NM_138927.3(SON):c.5547_5548GA[1] (p.Arg1850fs) rs886039774
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.3(SON):c.6087del (p.Ser2029fs) rs1569059792
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337

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