ClinVar Miner

List of variants reported as pathogenic by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter) rs775196743 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter) rs758275952 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) rs1278804520 0.00001
NM_001379500.1(COL18A1):c.3809+2T>C rs113847452 0.00001
NM_001382391.1(CSPP1):c.2968+1G>T rs587777142 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs) rs1064796104
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) rs1598286050
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) rs2153501416
NM_000093.5(COL5A1):c.4338+1G>A rs1564481053
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter) rs2132621608
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) rs763378933
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000162.5(GCK):c.45+1G>T rs781260712
NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter) rs1669529094
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs) rs1559159868
NM_000214.3(JAG1):c.2323del (p.Glu775fs) rs2067296758
NM_000216.4(ANOS1):c.23_24del (p.Ala8fs) rs1602050730
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000264.5(PTCH1):c.1764del (p.Leu589fs) rs1564035949
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000273.3(GPR143):c.731del (p.Ile244fs) rs1569118851
NM_000277.3(PAH):c.(?_169)_352+?del
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter) rs562015640
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro) rs2132157246
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000424.4(KRT5):c.596A>T (p.Lys199Met) rs58766676
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter) rs760094345
NM_000494.4(COL17A1):c.779del (p.Pro260fs) rs1589572214
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) rs200862792
NM_000507.4(FBP1):c.1_170del (p.Met1fs) rs1563991556
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000642.3(AGL):c.3481_3589-407del
NM_001002295.2(GATA3):c.389del (p.Leu130fs) rs2131488953
NM_001009944.3(PKD1):c.7111del (p.Val2371fs) rs1567187420
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001110556.2(FLNA):c.2020_2021del (p.Arg674fs) rs1569551783
NM_001123385.2(BCOR):c.558T>G (p.Tyr186Ter)
NM_001126108.2(SLC12A3):c.659del (p.Gly220fs) rs2144689577
NM_001135599.4:c.595_1245del
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter) rs1057518332
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001270508.2(TNFAIP3):c.1694C>G (p.Ser565Ter)
NM_001287.6(CLCN7):c.2250+1G>T rs1567263375
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) rs1282230077
NM_001370259.2(MEN1):c.734del (p.Pro245fs) rs1565646772
NM_001374353.1(GLI2):c.2302_2306dup (p.Arg770fs)
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter) rs377021700
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter) rs2143184846
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001844.5(COL2A1):c.1887+1G>A rs2136561510
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) rs1592233968
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_002968.3(SALL1):c.1148del (p.Leu383fs)
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs) rs797045662
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer) rs2047724604
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004826.4(ECEL1):c.509del (p.Gly170fs) rs1553567937
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_005120.3(MED12):c.2224C>T (p.Gln742Ter) rs2147791994
NM_005251.3(FOXC2):c.710dup (p.Gln238fs) rs1974224118
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005861.4(STUB1):c.885dup (p.Glu296Ter) rs1567283195
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_013275.6(ANKRD11):c.5564_5565del (p.Tyr1855fs)
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) rs1563714392
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter) rs1565799131
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_014946.3(SPAST):c.(?_1729)_(1851_?)del
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs) rs2107416290
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_017849.4(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017909.4(RMND1):c.856del (p.Glu286fs) rs1780213490
NM_020376.4(PNPLA2):c.757+1G>T rs869320738
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_033380.3(COL4A5):c.3177del (p.Gly1060fs) rs1569499015
NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_138691.3(TMC1):c.885-2A>C rs1564554148
NM_138927.4(SON):c.117del (p.Ile41fs)
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) rs2048682798
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter) rs148646547
NM_153700.2(STRC):c.3499_4701+1del
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter) rs2145417826
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243

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