ClinVar Miner

List of variants reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
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HGVS dbSNP
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_000056.4(BCKDHB):c.1090G>A (p.Asp364Asn) rs1060499715
NM_000056.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_000059.3(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000088.3(COL1A1):c.2586del (p.Gly863fs)
NM_000088.3(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.4(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu)
NM_000091.4(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.725G>A (p.Gly242Glu)
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.4(COL4A4):c.1030-1G>C rs1559620132
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg)
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser)
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.755G>T (p.Gly252Val)
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) rs1060499692
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs) rs763890649
NM_000180.3(GUCY2D):c.2516C>G (p.Thr839Arg)
NM_000186.3(CFH):c.3542T>C (p.Leu1181Ser)
NM_000186.3(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys)
NM_000204.4(CFI):c.310G>A (p.Gly104Arg) rs200419722
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.849+5G>A rs1060499716
NM_000267.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_000267.3(NF1):c.2010del (p.Ala671fs)
NM_000267.3(NF1):c.2329T>G (p.Trp777Gly)
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.3378_3381dup (p.Gly1128fs)
NM_000267.3(NF1):c.3708+1G>A
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000321.2(RB1):c.1002del (p.Arg334fs)
NM_000321.2(RB1):c.1696-2A>G
NM_000321.2(RB1):c.273T>A (p.Tyr91Ter)
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000339.3(SLC12A3):c.1406C>A (p.Ala469Asp)
NM_000339.3(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_000339.3(SLC12A3):c.509T>C (p.Leu170Pro)
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000352.5(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
NM_000424.4(KRT5):c.1394T>G (p.Val465Gly) rs1555156076
NM_000451.3(SHOX):c.479G>A (p.Arg160His)
NM_000457.4(HNF4A):c.706T>A (p.Ser236Thr) rs1060499693
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000495.5(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_000495.5(COL4A5):c.1708G>A (p.Gly570Arg)
NM_000495.5(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_000495.5(COL4A5):c.2183G>A (p.Gly728Glu)
NM_000495.5(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_000495.5(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_000495.5(COL4A5):c.2587G>A (p.Gly863Ser)
NM_000495.5(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_000495.5(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_000495.5(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_000495.5(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_000495.5(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_000495.5(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_000495.5(COL4A5):c.3924G>A (p.Gln1308=) rs281874724
NM_000495.5(COL4A5):c.4511-345A>G rs1569508899
NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) rs1569509257
NM_000495.5(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_000495.5(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.5(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_000495.5(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_000495.5(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_000495.5(COL4A5):c.929G>T (p.Gly310Val) rs1556407064
NM_000517.6(HBA2):c.268_280del (p.His90fs)
NM_000527.4(LDLR):c.463T>A (p.Cys155Ser) rs879254535
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000537.4(REN):c.47T>A (p.Leu16His) rs121917743
NM_000539.3(RHO):c.328T>G (p.Cys110Gly)
NM_000545.6(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000548.5(TSC2):c.1559_1560AC[3] (p.His522fs) rs1555502530
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000557.5(GDF5):c.1397G>A (p.Cys466Tyr) rs886039878
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) rs375335006
NM_000901.5(NR3C2):c.2096del (p.Pro699fs) rs748573472
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter) rs765879360
NM_001009944.3(PKD1):c.11303_11304AC[1] (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001079846.1(CREBBP):c.7147_*247delinsC (p.Ser2383_Ter2405delinsXaa) rs1555470631
NM_001080442.2(SLC38A8):c.806-3C>G rs1057516193
NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5549-2A>C rs1564435513
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001128177.2(THRB):c.977A>G (p.Glu326Gly) rs1060499695
NM_001134418.1(P3H2):c.136G>T (p.Glu46Ter)
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu)
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001164277.1(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_001193315.1(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001297.5(CNGB1):c.2893-7G>A rs749199721
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp)
NM_002316.3(LMX1B):c.192dup (p.Asp65fs) rs1057516196
NM_002389.4(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_002389.4(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_002420.6(TRPM1):c.216T>G (p.Tyr72Ter) rs372529012
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) rs1554095500
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg) rs796052033
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter) rs763991433
NM_003647.3(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.3(DGKE):c.1442dup (p.Val482fs)
NM_003647.3(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003901.4(SGPL1):c.87del (p.Asn28_Tyr29insTer) rs1564622701
NM_003990.5(PAX2):c.220del (p.Glu74fs)
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly)
NM_004646.3(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.3(NPHS1):c.2902G>T (p.Gly968Cys) rs772979927
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_005183.4(CACNA1F):c.3070-2A>G rs1057516199
NM_005450.5(NOG):c.599T>C (p.Leu200Pro) rs1567745111
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)
NM_006494.4(ERF):c.286A>T (p.Lys96Ter)
NM_006915.3(RP2):c.758del (p.Leu253fs)
NM_006941.3(SOX10):c.428+2T>C
NM_007298.3(BRCA1):c.787+353dup rs876659327
NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) rs545551160
NM_013227.3(ACAN):c.-7-2A>T
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162
NM_014625.3(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.3(NPHS2):c.479A>T (p.Asp160Val) rs74315346
NM_014669.5(NUP93):c.1709T>A (p.Val570Glu) rs1351580598
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) rs1161445886
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) rs886039881
NM_018668.4(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_020920.4(CHD8):c.5507_5508del (p.Leu1835_Tyr1836insTer)
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer)
NM_024426.6(WT1):c.1259A>C (p.His420Pro) rs1554939785
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_032667.6(BSCL2):c.1125C>A (p.Val375=) rs1057516190
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121
NM_080877.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu)
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_139025.4(ADAMTS13):c.1585-1G>C rs1554789680
NM_139025.4(ADAMTS13):c.4105_4221del (p.Thr1369_Thr1407del) rs1554797078
NM_144573.3(NEXN):c.799G>T (p.Glu267Ter) rs771262904
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del)
NM_173591.3(OTOGL):c.4507_4508TG[1] (p.Cys1503fs)
NM_178454.5(DRAM2):c.568G>T (p.Glu190Ter) rs1057516195
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val)
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.9258+1G>A rs748810737

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