ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 329
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dup rs886050114
NM_000059.3(BRCA2):c.*416G>T rs886050116
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*839del rs75353978
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*104G>A
NM_000135.4(FANCA):c.*109C>T
NM_000135.4(FANCA):c.*138T>A
NM_000135.4(FANCA):c.*144G>C
NM_000135.4(FANCA):c.*146C>T rs556325258
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*166G>A rs886052479
NM_000135.4(FANCA):c.*172G>A
NM_000135.4(FANCA):c.*252G>C rs17233797
NM_000135.4(FANCA):c.*286C>T rs17233804
NM_000135.4(FANCA):c.*287G>A rs17227417
NM_000135.4(FANCA):c.*317G>A rs201817705
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*42A>T
NM_000135.4(FANCA):c.*447T>C rs771942409
NM_000135.4(FANCA):c.*521C>T rs144644592
NM_000135.4(FANCA):c.*625C>T
NM_000135.4(FANCA):c.*654C>T rs17227438
NM_000135.4(FANCA):c.*670G>T
NM_000135.4(FANCA):c.*672G>C
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*819T>C rs186050933
NM_000135.4(FANCA):c.*843C>T rs201316239
NM_000135.4(FANCA):c.*851G>A rs886052478
NM_000135.4(FANCA):c.*937A>G rs55794507
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-12G>C
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1471-10C>G
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
NM_000135.4(FANCA):c.1826+12C>T rs183513839
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.1826+4T>A
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.18C>G (p.Val6=)
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-13T>C
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2852+12A>T
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4010+12C>T
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4261-9C>G rs368506826
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.80-13C>T rs189841793
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_004629.1(FANCG):c.-182del rs886063899
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-504A>T rs17885140
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) rs765095688
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_018193.3(FANCI):c.3636+17_3636+19del rs374324314
NM_018193.3(FANCI):c.3745-84_3745-81dup rs1444126104
NM_018193.3(FANCI):c.669+17_669+18del rs751881445
NM_020937.4(FANCM):c.*100_*103TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*232G>A rs7155480
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.*368C>G rs886050507
NM_020937.4(FANCM):c.*375A>G rs749001988
NM_020937.4(FANCM):c.*546C>G rs886050508
NM_020937.4(FANCM):c.*756G>A rs886050509
NM_020937.4(FANCM):c.*797T>C rs886050510
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375
NM_020937.4(FANCM):c.3327T>C (p.Asn1109=) rs886050500
NM_020937.4(FANCM):c.3758A>T (p.Asn1253Ile) rs45604036
NM_020937.4(FANCM):c.390C>T (p.Arg130=) rs147395934
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) rs772889740
NM_020937.4(FANCM):c.4102G>A (p.Val1368Ile) rs886050501
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) rs150389713
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5097A>G (p.Lys1699=) rs886050503
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772
NM_020937.4(FANCM):c.555A>G (p.Arg185=) rs886050498
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.92G>T (p.Arg31Leu) rs886050496
NM_021922.2(FANCE):c.*216del rs45584740
NM_021922.2(FANCE):c.*729A>G rs886061334
NM_022725.3(FANCF):c.*1338dup rs45554234
NM_022725.3(FANCF):c.*655_*659delATTAA rs886048154
NM_022725.3(FANCF):c.*695dup rs796646840
NM_022725.3(FANCF):c.261_263del (p.His88del) rs886048158
NM_024675.3(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_032043.2(BRIP1):c.*1048_*1050del rs564290244
NM_032043.2(BRIP1):c.*1257_*1258delAG rs886053209
NM_032043.2(BRIP1):c.*2082_*2085del rs10601136
NM_032043.2(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.2(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.2(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.2(BRIP1):c.*283del rs531656835
NM_032043.2(BRIP1):c.*3114del rs35235448
NM_032043.2(BRIP1):c.*339G>C rs886053212
NM_032043.2(BRIP1):c.*396_*397delCT rs546666211
NM_032043.2(BRIP1):c.-237dup rs112243287
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643
NM_032444.4(SLX4):c.4650_4652GAA[2] (p.Lys1552del) rs760517738
NM_033084.5(FANCD2):c.378-6_378-5del rs55973240
NM_058216.3(RAD51C):c.*25C>G rs28363336
NM_058216.3(RAD51C):c.-26C>T rs12946397
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_173472.2(FANCD2OS):c.43+5028T>C rs770674504
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179

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.