ClinVar Miner

List of variants studied for anemia (disease) by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 322
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.3(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354
NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys)
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly)
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser)
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.421C>T (p.Arg141Cys) rs201153812
NM_004629.1(FANCG):c.730G>A (p.Val244Met) rs746248064
NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) rs17880082
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078
NM_005475.2(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met) rs786202386
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.3(BRCA1):c.20G>A (p.Arg7His) rs144792613
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.3(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val) rs587781768
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.527C>T (p.Thr176Met) rs587782747
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016434.3(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162
NM_016434.3(RTEL1):c.2987C>A (p.Pro996His) rs373210484
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) rs768911543
NM_021922.2(FANCE):c.311C>G (p.Ala104Gly) rs773580818
NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) rs759034838
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.573C>G (p.Ser191Arg) rs146219377
NM_022725.3(FANCF):c.647G>C (p.Arg216Pro) rs192534185
NM_022725.3(FANCF):c.795C>A (p.Ser265Arg)
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) rs180177100
NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) rs537258442
NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.3(PALB2):c.1348A>C (p.Asn450His) rs62625274
NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) rs786203176
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733
NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) rs730881899
NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu) rs761478794
NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln) rs515726103
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) rs730881882
NM_032043.2(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) rs374334794
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.2(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
NM_032043.2(BRIP1):c.752G>A (p.Arg251His) rs780834054
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) rs550031006
NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) rs587781425
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798
NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro)
NM_033084.5(FANCD2):c.310A>G (p.Ile104Val) rs774299094
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.404+2T>C rs730881931
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.2(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.887A>C (p.His296Pro) rs778187343

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.