ClinVar Miner

List of variants reported for not specified by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_000059.4(BRCA2):c.8755-66T>C rs4942486 0.51824
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000059.4(BRCA2):c.631+183T>A rs3752451 0.32939
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.4987-68A>G rs8176234 0.30809
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.4987-92A>G rs8176233 0.30647
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_007294.4(BRCA1):c.5074+65G>A rs8176235 0.23738
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_001009944.3(PKD1):c.1119= (p.Leu373=) rs35842 0.16401
NM_007294.4(BRCA1):c.442-34C>T rs799923 0.15730
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03878
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_000059.4(BRCA2):c.426-89T>C rs3783265 0.03704
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_001009944.3(PKD1):c.2216= (p.Arg739=) rs40433 0.03313
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803 0.02380
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_199420.4(POLQ):c.4141C>A (p.Pro1381Thr) rs3218642 0.01943
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_018124.4(RFWD3):c.1082C>T (p.Ser361Phe) rs77132945 0.01337
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_005245.4(FAT1):c.13727C>T (p.Thr4576Met) rs142057401 0.01074
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_005245.4(FAT1):c.7700G>A (p.Arg2567His) rs116784674 0.00826
NM_004900.5(APOBEC3B):c.262A>C (p.Ile88Leu) rs151303359 0.00805
NM_000059.4(BRCA2):c.316+108A>G rs115376548 0.00769
NM_000059.4(BRCA2):c.8632+132dup rs201392123 0.00742
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_014679.5(CEP57):c.333G>C (p.Gln111His) rs117321017 0.00613
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_021930.6(RINT1):c.2276C>T (p.Pro759Leu) rs34310648 0.00537
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067 0.00508
NM_004423.4(DVL3):c.291G>A (p.Ser97=) rs150288196 0.00499
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_005612.5(REST):c.2206C>T (p.Pro736Ser) rs61754065 0.00455
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_199420.4(POLQ):c.2891A>C (p.Glu964Ala) rs3218633 0.00436
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_005245.4(FAT1):c.3503C>T (p.Ser1168Leu) rs200633985 0.00375
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168 0.00354
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000059.4(BRCA2):c.6842-73T>A rs11571673 0.00344
NM_153700.2(STRC):c.3540T>G (p.Leu1180=) rs199524735 0.00335
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser) rs140454899 0.00299
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005245.4(FAT1):c.8535G>A (p.Met2845Ile) rs138948513 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_005245.4(FAT1):c.4841C>T (p.Pro1614Leu) rs183343406 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_000059.4(BRCA2):c.8488-108C>T rs11571745 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_199420.4(POLQ):c.273G>T (p.Lys91Asn) rs61757738 0.00216
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996 0.00198
NM_006164.5(NFE2L2):c.529T>G (p.Leu177Val) rs35577826 0.00197
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_007294.4(BRCA1):c.5277+48_5277+59dup rs572766355 0.00187
NM_170682.4(P2RX2):c.774+7C>G rs199743808 0.00186
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_006734.4(HIVEP2):c.4654C>T (p.Pro1552Ser) rs181273304 0.00175
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_178335.3(CCDC50):c.1276A>G (p.Lys426Glu) rs114146378 0.00170
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe) rs184745422 0.00140
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.8488-52A>G rs192566064 0.00135
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys) rs138913417 0.00132
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_000059.4(BRCA2):c.9257-49T>C rs117850955 0.00120
NM_000029.4(AGT):c.151T>C (p.Cys51Arg) rs61731497 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys) rs146913158 0.00105
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001312909.2(FAM111A):c.316A>G (p.Met106Val) rs368439990 0.00082
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_000059.4(BRCA2):c.7617+39G>A rs190660894 0.00059
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_020754.4(ARHGAP31):c.3104C>T (p.Thr1035Ile) rs201997376 0.00049
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00046
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_020717.5(SHROOM4):c.2453G>A (p.Cys818Tyr) rs138676318 0.00041
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_153490.3(KRT13):c.760G>C (p.Val254Leu) rs565217320 0.00034
NM_015102.5(NPHP4):c.944C>T (p.Thr315Met) rs200684272 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_021930.6(RINT1):c.1025T>C (p.Met342Thr) rs140651827 0.00031
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_000059.4(BRCA2):c.425+33A>G rs200065709 0.00028
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_006766.5(KAT6A):c.3440A>T (p.Lys1147Ile) rs545152883 0.00023
NM_000059.4(BRCA2):c.7976+35C>A rs181176701 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_007294.4(BRCA1):c.807G>A (p.Leu269=) rs149867679 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.516+102T>C rs56251699 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=) rs202137607 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_000059.4(BRCA2):c.-39-36C>G rs183997506 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000273.3(GPR143):c.1045G>A (p.Glu349Lys) rs138809166 0.00017
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro) rs201459076 0.00014
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000059.4(BRCA2):c.8633-26A>G rs56268579 0.00011
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile) rs144517660 0.00011
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_000059.4(BRCA2):c.6937+74C>G rs971938860 0.00010
NM_001009944.3(PKD1):c.7210-6C>T rs759723934 0.00010
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_198947.4(FAM111B):c.2140G>A (p.Asp714Asn) rs753918637 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_004304.5(ALK):c.2011C>T (p.Pro671Ser) rs145780832 0.00006
NM_004385.5(VCAN):c.2618T>G (p.Ile873Arg) rs150395515 0.00006
NM_000059.4(BRCA2):c.426-37T>A rs81002859 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_170606.3(KMT2C):c.7831C>T (p.Pro2611Ser) rs150673607 0.00005
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_001009944.3(PKD1):c.1202-8G>A rs560799680 0.00004
NM_001166108.2(PALLD):c.1965-12565G>A rs368350042 0.00004
NM_001374736.1(DST):c.23228G>A (p.Arg7743Gln) rs762220017 0.00004
NM_004171.4(SLC1A2):c.1622C>G (p.Ala541Gly) rs148795275 0.00004
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) rs568335048 0.00004
NM_000059.4(BRCA2):c.426-22G>T rs368499005 0.00003
NM_000059.4(BRCA2):c.6937+49A>G rs745309949 0.00003
NM_000059.4(BRCA2):c.9256+28T>A rs779846458 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522 0.00003
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888 0.00003
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=) rs767544833 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_001123385.2(BCOR):c.3950C>T (p.Pro1317Leu) rs780412607 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_000059.4(BRCA2):c.68-17del rs752172011 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8954-28T>G rs1213906135 0.00001
NM_000059.4(BRCA2):c.9256+54T>A rs1555288597 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys) rs371898195 0.00001
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=) rs577199866 0.00001
NM_012330.4(KAT6B):c.362C>T (p.Pro121Leu) rs201828896 0.00001
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro) rs189782013 0.00001
NM_024408.4(NOTCH2):c.6469C>A (p.Pro2157Thr) rs587640708 0.00001
NM_138694.4(PKHD1):c.11578A>G (p.Ile3860Val) rs755986501 0.00001
NM_145331.3(MAP3K7):c.1408C>A (p.Pro470Thr) rs1003317029 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_170606.3(KMT2C):c.11506C>A (p.Gln3836Lys) rs575806970 0.00001
NM_000051.4(ATM):c.4242C>G (p.Ser1414=) rs2135759239
NM_000059.4(BRCA2):c.-50_-48del rs1555279965
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.317-133dup rs1261138781
NM_000059.4(BRCA2):c.317-15A>G rs1555280835
NM_000059.4(BRCA2):c.426-37dup rs1209765916
NM_000059.4(BRCA2):c.516+14del rs1336445194
NM_000059.4(BRCA2):c.517-105A>G rs552306042
NM_000059.4(BRCA2):c.6937+34C>T rs1555285174
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.8331+5A>G rs1555287099
NM_000059.4(BRCA2):c.8332-41A>G rs751662106
NM_000059.4(BRCA2):c.8487+47C>A rs11571744
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000059.4(BRCA2):c.8755-14T>C rs1555288362
NM_000059.4(BRCA2):c.8755-65A>G rs1001404909
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-40C>A rs1159429127
NM_000059.4(BRCA2):c.9648+106del rs11571824
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000249.4(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTA rs535965616
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1039-9_1039-8del rs57509953
NM_000249.4(MLH1):c.2170T>C (p.Leu724=) rs63749875
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu) rs1553641362
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg) rs1553645131
NM_000249.4(MLH1):c.754T>C (p.Ser252Pro) rs876661260
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.3(MSH2):c.1277-12A>T rs1181142850
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.706-7_706-4del rs60794673
NM_000548.5(TSC2):c.*272CA[6] rs56279647
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.7210-9T>A rs1555453254
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001166108.2(PALLD):c.1965-12694CCA[3] rs201979617
NM_001267550.2(TTN):c.30683-2delinsTTTTTTTTTT rs2154286648
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001942.4(DSG1):c.2485C>T (p.Pro829Ser) rs556017565
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) rs11267392
NM_003194.5(TBP):c.222_224del (p.Gln95del) rs1562359513
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.547+14_547+15del rs1555594761
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_016222.4(DDX41):c.27+2_27+5dup rs142465759
NM_017654.4(SAMD9):c.223C>T (p.Arg75Trp) rs111780648
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys) rs61734121
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_199420.4(POLQ):c.3072_3074del (p.Lys1025del) rs41547220
Single allele

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