ClinVar Miner

List of variants reported as likely benign for congenital limb malformation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 596
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HGVS dbSNP gnomAD frequency
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_004282.4(BAG2):c.*4959T>C rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_001361.4(DHODH):c.-29A>G rs34270657 0.06520
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_017837.3(PIGV):c.-370G>A rs71636780 0.05676
NM_004629.1(FANCG):c.-504A>T rs17885140 0.05593
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_020639.3(RIPK4):c.*275T>C rs73369674 0.05243
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_001113525.2(ZNF276):c.1574+17del rs375657470 0.04486
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_032634.4(PIGO):c.*267C>G rs79276933 0.03143
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_002472.3(MYH8):c.*76G>C rs3744551 0.02877
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.*1825_*1826del rs147363340 0.02795
NM_020639.3(RIPK4):c.*748A>G rs17113877 0.02775
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_020639.3(RIPK4):c.*219T>G rs112292749 0.02518
NM_002334.4(LRP4):c.*929C>A rs79910473 0.02450
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_020639.3(RIPK4):c.*578C>A rs17113879 0.02132
NM_002334.4(LRP4):c.*2104C>G rs7928628 0.02130
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_020639.3(RIPK4):c.*741G>A rs13050509 0.01754
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_153280.2(UBA1):c.*203C>T rs182093778 0.01657
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_002472.3(MYH8):c.4233C>T (p.Asn1411=) rs138992963 0.01251
NM_006306.4(SMC1A):c.*96C>T rs139317060 0.01188
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_006306.4(SMC1A):c.*3838G>A rs144702614 0.01053
NM_006306.4(SMC1A):c.*2973C>T rs56110615 0.01037
NM_006147.4(IRF6):c.*2394dup rs144945364 0.00999
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_022725.4(FANCF):c.*1484G>A rs181285048 0.00843
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_005055.5(RAPSN):c.-72C>T rs117947983 0.00803
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_006306.4(SMC1A):c.*5380G>A rs186354950 0.00739
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_001793.5(CDH3):c.-399G>C rs74674351 0.00688
NM_006306.4(SMC1A):c.*4645T>C rs150365487 0.00678
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_006757.3(TNNT3):c.-83G>A rs114407235 0.00585
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) rs2292470 0.00576
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_001361.5(DHODH):c.*868A>G rs149599098 0.00547
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_020639.3(RIPK4):c.*715A>G rs77257940 0.00513
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) rs55812846 0.00492
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000136.3(FANCC):c.*1895T>C rs56161090 0.00488
NM_032043.3(BRIP1):c.*729C>T rs137967725 0.00475
NM_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006 0.00462
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_002010.3(FGF9):c.-118_-117insC rs1555223896 0.00456
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_002472.3(MYH8):c.805+9C>T rs75468422 0.00426
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_006757.4(TNNT3):c.723-15G>C rs143255528 0.00407
NM_032043.3(BRIP1):c.*152G>T rs540229694 0.00405
NM_000059.4(BRCA2):c.*842A>G rs192347116 0.00401
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_002472.3(MYH8):c.*72T>C rs184845947 0.00388
NM_001793.6(CDH3):c.*485A>G rs192275133 0.00369
NM_018668.5(VPS33B):c.-269T>C rs561174112 0.00367
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_032043.3(BRIP1):c.*3302G>T rs188292745 0.00362
NM_138959.3(VANGL1):c.*2336A>G rs148944333 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met) rs73977155 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000059.4(BRCA2):c.*839T>C rs76358429 0.00354
NM_003282.4(TNNI2):c.*94C>T rs117830156 0.00349
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_018668.5(VPS33B):c.363T>C (p.Tyr121=) rs149733667 0.00337
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000900.5(MGP):c.*140T>C rs148802642 0.00331
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_006306.4(SMC1A):c.*4952_*4953del rs782700101 0.00325
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_020639.3(RIPK4):c.1941G>A (p.Thr647=) rs116160025 0.00314
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_032444.4(SLX4):c.*1041A>G rs117958592 0.00304
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_032043.3(BRIP1):c.*1964T>C rs140267868 0.00297
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_032634.4(PIGO):c.-94C>A rs533921038 0.00295
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_020639.3(RIPK4):c.819G>A (p.Arg273=) rs139503982 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile) rs143876651 0.00285
NM_133433.4(NIPBL):c.-312T>A rs540966156 0.00284
NM_004629.1(FANCG):c.-450G>C rs535301610 0.00283
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001361.5(DHODH):c.*139C>T rs140263128 0.00282
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001999.4(FBN2):c.-344G>C rs564044015 0.00277
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000900.5(MGP):c.*538C>G rs139069321 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00241
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_002470.4(MYH3):c.1566C>A (p.Ile522=) rs146873206 0.00236
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_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639 0.00227
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_032444.4(SLX4):c.*658T>C rs541410329 0.00227
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937 0.00225
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_002470.4(MYH3):c.2289+4A>G rs111835858 0.00218
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000059.4(BRCA2):c.*841A>G rs186619625 0.00210
NM_002470.4(MYH3):c.-63G>A rs141754213 0.00209
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_032444.4(SLX4):c.-381A>G rs375326827 0.00205
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_004282.4(BAG2):c.*4565A>G rs11969200 0.00198
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) rs146999653 0.00165
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576 0.00163
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_000136.3(FANCC):c.*1262T>C rs45520432 0.00155
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_002334.4(LRP4):c.*2054C>T rs151112380 0.00152
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_001113525.2(ZNF276):c.1575-29G>A rs17227438 0.00151
NM_032043.3(BRIP1):c.*3755A>G rs183234058 0.00149
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_022725.4(FANCF):c.*709G>T rs140060318 0.00136
NM_001999.4(FBN2):c.*371T>G rs531108136 0.00135
NM_138959.3(VANGL1):c.*5466G>A rs192325588 0.00135
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000059.4(BRCA2):c.*382A>G rs559790882 0.00113
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_000136.3(FANCC):c.*1879C>T rs192262179 0.00107
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
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_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_004282.4(BAG2):c.*5594A>G rs375855440 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_004282.4(BAG2):c.*3082A>G rs139222657 0.00086
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_018062.4(FANCL):c.*333A>G rs147811379 0.00076
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.*593C>G rs561885351 0.00073
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_002472.3(MYH8):c.2274A>G (p.Gln758=) rs145901155 0.00065
NM_001361.5(DHODH):c.*1088T>C rs567852382 0.00063
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000900.5(MGP):c.207T>C (p.Asn69=) rs186013880 0.00056
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.4647+6T>G rs375163919 0.00054
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) rs75160168 0.00053
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00050
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) rs61734296 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_000136.3(FANCC):c.*213T>G rs184733418 0.00046
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000136.3(FANCC):c.*660C>T rs114612660 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_020639.3(RIPK4):c.2323G>A (p.Ala775Thr) rs142879262 0.00038
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_004282.4(BAG2):c.*5287C>T rs148372304 0.00034
NM_032444.4(SLX4):c.*1035A>G rs149634682 0.00034
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_005445.4(SMC3):c.*17A>G rs199611616 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) rs138871311 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_002470.4(MYH3):c.1521C>T (p.Ile507=) rs140685610 0.00029
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) rs191837780 0.00029
NM_018668.5(VPS33B):c.604-14T>C rs143987577 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_001361.5(DHODH):c.*252C>T rs147792232 0.00025
NM_020639.3(RIPK4):c.2250G>A (p.Thr750=) rs201024640 0.00023
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) rs184919169 0.00022
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) rs140485834 0.00022
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000136.3(FANCC):c.*587C>T rs190544450 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_002472.3(MYH8):c.2117G>A (p.Arg706His) rs150351713 0.00020
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00018
NM_002470.4(MYH3):c.4109C>T (p.Ala1370Val) rs200964415 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_001361.5(DHODH):c.*14C>T rs370049658 0.00016
NM_001793.6(CDH3):c.*142C>T rs571959258 0.00016
NM_002470.4(MYH3):c.*39G>A rs372305218 0.00016
NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg) rs201598997 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 0.00016
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00016
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_020639.3(RIPK4):c.2325C>T (p.Ala775=) rs148947402 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_138959.3(VANGL1):c.231G>A (p.Thr77=) rs186509771 0.00014
NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) rs145309218 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000751.3(CHRND):c.*908A>G rs547787086 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys) rs151091483 0.00012
NM_138959.3(VANGL1):c.*1545A>G rs117337677 0.00012
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_003722.5(TP63):c.699A>G (p.Lys233=) rs199727371 0.00011
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00010
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002472.3(MYH8):c.675C>T (p.Ser225=) rs146651214 0.00009
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448 0.00009
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_020639.3(RIPK4):c.1100G>T (p.Ser367Ile) rs201477363 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) rs78535164 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_001999.4(FBN2):c.*234T>C rs375135682 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_020639.3(RIPK4):c.2296C>G (p.Leu766Val) rs200025631 0.00008
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=) rs772465221 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_006306.4(SMC1A):c.*2540C>G rs182535846 0.00007
NM_006306.4(SMC1A):c.*2589A>G rs782291666 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000136.3(FANCC):c.*250G>A rs193261247 0.00006
NM_001361.5(DHODH):c.*1174T>G rs148338434 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_002010.3(FGF9):c.420C>T (p.Phe140=) rs765041263 0.00006
NM_002470.4(MYH3):c.297G>A (p.Glu99=) rs375498642 0.00006
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) rs142131471 0.00006
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_003722.5(TP63):c.1707G>A (p.Gly569=) rs202009057 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_138959.3(VANGL1):c.1299C>T (p.Asn433=) rs145137292 0.00006
NM_138959.3(VANGL1):c.812+9C>T rs370321176 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_002470.4(MYH3):c.5253C>T (p.Asn1751=) rs751137584 0.00005
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) rs374627741 0.00004
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943 0.00004
NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys) rs147024680 0.00004
NM_002470.4(MYH3):c.4941C>T (p.Val1647=) rs143855213 0.00004
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_003722.5(TP63):c.1374A>G (p.Ser458=) rs141794685 0.00004
NM_003722.5(TP63):c.63-1G>C rs200607940 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_004629.2(FANCG):c.-93C>G rs532840867 0.00004
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_018668.5(VPS33B):c.1170+5G>A rs201431055 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_138959.3(VANGL1):c.51G>A (p.Ser17=) rs575493003 0.00004
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_001999.4(FBN2):c.-448C>T rs529025715 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.532C>T (p.Pro178Ser) rs765177174 0.00003
NM_002010.3(FGF9):c.283C>G (p.Leu95Val) rs776951218 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr) rs761232017 0.00003
NM_002470.4(MYH3):c.4203C>T (p.Ser1401=) rs746562608 0.00003
NM_002470.4(MYH3):c.4752C>T (p.Ile1584=) rs189005323 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_005445.3(SMC3):c.-135G>A rs17127559 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) rs543050989 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_000136.3(FANCC):c.*2271G>A rs562841213 0.00002
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=) rs146295846 0.00002
NM_002470.4(MYH3):c.5299G>A (p.Ala1767Thr) rs773612935 0.00002
NM_005445.3(SMC3):c.-130G>A rs559499419 0.00002
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 0.00002
NM_020754.4(ARHGAP31):c.*466C>T rs116944967 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000136.3(FANCC):c.*1516A>G rs541816451 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.1821A>G (p.Glu607=) rs776515245 0.00001
NM_001999.4(FBN2):c.2874G>A (p.Glu958=) rs765859878 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=) rs573245869 0.00001
NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu) rs147007629 0.00001
NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=) rs767982400 0.00001
NM_002470.4(MYH3):c.298C>T (p.Pro100Ser) rs767400961 0.00001
NM_002470.4(MYH3):c.4238C>T (p.Ala1413Val) rs757083529 0.00001
NM_002470.4(MYH3):c.505+12A>G rs200031876 0.00001
NM_002470.4(MYH3):c.800-5T>A rs755904046 0.00001
NM_003289.4(TPM2):c.813C>T (p.Ser271=) rs201215303 0.00001
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_032043.3(BRIP1):c.*3479A>G rs573351550 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_032634.4(PIGO):c.-213C>G rs547807832 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_138959.3(VANGL1):c.114C>T (p.Asp38=) rs201840785 0.00001
NM_138959.3(VANGL1):c.572T>C (p.Val191Ala) rs781010619 0.00001
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) rs760334883 0.00001
NM_000059.4(BRCA2):c.*248T>C rs542356535
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000079.4(CHRNA1):c.*422G>T rs184095877
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000136.3(FANCC):c.*2164G>A rs566582636
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715AGTT[2] rs56250966
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000900.5(MGP):c.62-9del rs11393307
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001113525.2(ZNF276):c.1574+26del rs66471129
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001999.4(FBN2):c.*372del rs544546746
NM_001999.4(FBN2):c.*93TAA[2] rs199925656
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly) rs760548036
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002010.3(FGF9):c.*2497del rs148832636
NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu) rs146314887
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234
NM_002470.4(MYH3):c.5052C>G (p.Ala1684=) rs149260479
NM_002470.4(MYH3):c.5607G>T (p.Val1869=) rs753515010
NM_002968.3(SALL1):c.*1112dup rs551203456
NM_002968.3(SALL1):c.*83GCCCC[1] rs374006676
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_004629.2(FANCG):c.-342G>T rs556082635
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_006306.4(SMC1A):c.*3087G>A rs782024964
NM_018668.5(VPS33B):c.240-13_240-12del rs111274092
NM_020639.3(RIPK4):c.630G>A (p.Ala210=) rs2838114
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCG rs528727956
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_032043.3(BRIP1):c.*2908C>T rs549941795
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032444.4(SLX4):c.*128A>G rs528843807
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_133433.4(NIPBL):c.*282_*285del rs535770794
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-429del rs376839773
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_181486.4(TBX5):c.*1477_*1480del rs564562667
NM_181486.4(TBX5):c.*836A>C rs537303672

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