ClinVar Miner

List of variants reported as likely benign for anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 667
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
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_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
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_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=) rs150957564 0.00078
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_182916.3(TRNT1):c.343-14G>A rs373630283 0.00034
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 0.00001
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) rs186462241 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro) rs554013810 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001032.5(RPS29):c.163-4del rs373877728
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.