ClinVar Miner

List of variants reported as likely pathogenic by Department of Pathology and Laboratory Medicine,Sinai Health System

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ClinVar version:
Total variants: 208
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HGVS dbSNP
NG_007406.1:g.15890del rs1597091518
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer)
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.3(BRCA2):c.2398_2423dup (p.Leu809fs) rs1555282658
NM_000059.3(BRCA2):c.2593G>T (p.Glu865Ter) rs587782014
NM_000059.3(BRCA2):c.2748del (p.Cys916fs) rs886040443
NM_000059.3(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.3(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.3(BRCA2):c.3328G>T (p.Glu1110Ter) rs1555283173
NM_000059.3(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.3(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
NM_000059.3(BRCA2):c.7977-2A>G rs276174899
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs) rs397507583
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs)
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs)
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1_7435+372del
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000065.4(C6):c.2381+2T>C rs76202909
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.2:c.1-?_260+?dup
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440
NM_000179.3(MSH6):c.3477C>A rs398123231
NM_000179.3(MSH6):c.3557-3_3573del
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.116+3A>G rs1553637475
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.208-3C>T rs267607720
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
NM_000249.4(MLH1):c.2059C>T rs63751275
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
NM_000249.4(MLH1):c.250A>G rs63750641
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010
NM_000251.2(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000253.3(MTTP):c.-149C>A rs886058955
NM_000271.5(NPC1):c.1947+2T>G rs764472245
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter)
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)
NM_000455.5(STK11):c.291-2_374+91del
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000535.5:c.2276-?_2589+?del
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
NM_000535.7(PMS2):c.989-85_1144+3del
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.731del (p.Gly244fs)
NM_000552.5(VWF):c.8069_8070insA (p.Thr2691fs)
NM_000553.6(WRN):c.2968-1G>A
NM_000558.5(HBA1):c.95+2_95+6del
NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCA
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.1202-2A>T
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
NM_001009944.3(PKD1):c.8022del (p.Ser2675fs)
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
NM_001038.6(SCNN1A):c.1439+1G>T
NM_001039141.3(TRIOBP):c.1866_1867del (p.Asp622fs)
NM_001044385.3(TMEM237):c.241C>T (p.Gln81Ter)
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) rs777735526
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT rs875989801
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001128425.1(MUTYH):c.470C>T (p.Pro157Leu) rs777184451
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) rs200566427
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001258271.1(MLH1):c.1896+1279_1896+1281del rs1553664506
NM_001277115.2(DNAH11):c.13163-1G>A
NM_001317163.2(C5):c.79del (p.Cys27fs)
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_002016.1(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002485.4(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.2071-1175_2184+2del
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978
NM_002878.3(RAD51D):c.141C>G (p.Tyr47Ter) rs771077929
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer)
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004153.4(ORC1):c.692del (p.Pro231fs)
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.2029C>T (p.Gln677Ter)
NM_004614.5(TK2):c.103C>T (p.Gln35Ter) rs886041321
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter)
NM_006859.4(LIAS):c.715del (p.Glu239fs)
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs)
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.1994del (p.Asn665fs) rs1555590714
NM_007294.4(BRCA1):c.3334del (p.Glu1112fs) rs1555587944
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_016343.4(CENPF):c.6376_6387delinsTGAAAAGAA (p.Val2126_Glu2129delinsTer)
NM_016343.4(CENPF):c.6387_6388insAA (p.Ala2130fs)
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_024675.4(PALB2):c.2997-161_3113+4del
NM_024675.4(PALB2):c.3351-150_*2del
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs)
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_138694.4(PKHD1):c.1156AAT[1] (p.Asn387del) rs1554218506
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.9146A>G (p.His3049Arg) rs367678592
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)
NM_181882.3(PRX):c.1972C>T (p.Gln658Ter)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182961.4(SYNE1):c.2383C>T (p.Gln795Ter)
NM_198488.5(FAM83H):c.2377del (p.Leu793fs)
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623
NM_206933.4(USH2A):c.8845+2T>G

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