ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Invitae

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 504
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HGVS dbSNP
NC_000001.10:g.(?_236958984)_(237060964_?)del
NC_000001.10:g.(?_24018304)_(24022873_?)del
NC_000001.10:g.(?_24022278)_(24022873_?)del
NC_000001.10:g.(?_43814924)_(43815040_?)del
NC_000001.10:g.(?_93297666)_(93299223_?)del
NC_000002.11:g.(?_58386890)_(58468458_?)del
NC_000003.11:g.(?_10070332)_(10085558_?)del
NC_000003.11:g.(?_10070332)_(10088417_?)del
NC_000003.11:g.(?_10106407)_(10188326_?)del
NC_000003.11:g.(?_148923935)_(148924146_?)del
NC_000003.11:g.(?_148939414)_(148939599_?)del
NC_000003.11:g.(?_197677829)_(197682654_?)del
NC_000003.11:g.(?_197677833)_(197682650_?)del
NC_000005.9:g.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NC_000009.11:g.(?_97863982)_(98270649_?)del
NC_000014.8:g.(?_103336519)_(103397037_?)del
NC_000015.9:g.(?_89790860)_(89860362_?)del
NC_000016.9:g.(?_14014013)_(14042214_?)del
NC_000016.9:g.(?_14021879)_(14022098_?)del
NC_000016.9:g.(?_3658431)_(3659567_?)del
NC_000016.9:g.(?_89804999)_(89883033_?)del
NC_000016.9:g.(?_89818536)_(89858965_?)del
NC_000016.9:g.(?_89818536)_(89883033_?)del
NC_000016.9:g.(?_89818546)_(89858955_?)del
NC_000016.9:g.(?_89824979)_(89851378_?)del
NC_000016.9:g.(?_89828351)_(89986626_?)del
NC_000016.9:g.(?_89831215)_(89871810_?)del
NC_000016.9:g.(?_89831288)_(89839802_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89833543)_(89883029_?)del
NC_000016.9:g.(?_89842140)_(89874785_?)del
NC_000016.9:g.(?_89842144)_(89842229_?)del
NC_000016.9:g.(?_89849257)_(89851382_?)del
NC_000016.9:g.(?_89849257)_(89862436_?)del
NC_000016.9:g.(?_89857801)_(89883033_?)del
NC_000016.9:g.(?_89857810)_(89883023_?)del
NC_000016.9:g.(?_89877105)_(89883033_?)del
NC_000016.9:g.(?_89877109)_(89883029_?)del
NC_000016.9:g.(?_89880922)_(89883029_?)del
NC_000017.10:g.(?_56769995)_(56770159_?)del
NC_000017.10:g.(?_56769995)_(56787361_?)del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56769999)_(56811589_?)del
NC_000017.10:g.(?_56774048)_(56774226_?)del
NC_000017.10:g.(?_56780547)_(56780700_?)del
NC_000017.10:g.(?_56780547)_(56811593_?)del
NC_000017.10:g.(?_56780557)_(56787351_?)del
NC_000017.10:g.(?_56787210)_(56811593_?)del
NC_000017.10:g.(?_56798097)_(56811593_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)del
NC_000017.10:g.(?_56798101)_(56801467_?)del
NC_000017.10:g.(?_56798107)_(56811703_?)del
NC_000017.10:g.(?_56809835)_(56811593_?)del
NC_000017.10:g.(?_59760647)_(59770883_?)del
NC_000017.10:g.(?_59760647)_(59793434_?)del
NC_000017.10:g.(?_59760651)_(59761507_?)del
NC_000017.10:g.(?_59793302)_(59886128_?)del
NC_000017.10:g.(?_59820368)_(59886124_?)del
NC_000017.10:g.(?_59853756)_(59878841_?)del
NC_000017.10:g.(?_59853756)_(59938906_?)del
NC_000017.10:g.(?_59924452)_(59926627_?)del
NC_000017.10:g.(?_59924462)_(59926617_?)del
NC_000017.10:g.(?_59934409)_(59938910_?)del
NC_000017.10:g.(?_59934413)_(59938906_?)del
NC_000017.10:g.(?_59937147)_(59938910_?)del
NC_000017.10:g.(?_7572921)_(8285634_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000020.10:g.(?_18492869)_(18496380_?)del
NC_000022.10:g.(?_31008840)_(31011794_?)del
NC_000023.10:g.(?_133594322)_(133594415_?)del
NC_000023.10:g.(?_133594322)_(133634127_?)del
NC_000023.10:g.(?_133607369)_(133634127_?)del
NC_000023.10:g.(?_76944291)_(76972740_?)del
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs)
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1630dup (p.His544fs)
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs)
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+1G>A
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3239+1dup
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.507del (p.Phe169fs)
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.319-2A>G
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)
NM_000254.2(MTR):c.1992_1993insATCA (p.Glu665fs)
NM_000254.2(MTR):c.2476del (p.Asp825_Ile826insTer)
NM_000254.2(MTR):c.3439C>T (p.Arg1147Ter)
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.428-2_428-1del
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
NM_001022.4(RPS19):c.173-2A>G
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2995_2999TCCTC[1] (p.Pro1001fs)
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.1(FANCI):c.3624_3625GT[1] (p.Cys1209fs) rs770318990
NM_001113378.1(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.1(FANCI):c.3669_3672dup (p.Tyr1225fs)
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001142283.1(RPS24):c.13_14del (p.Val5fs)
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002454.2(MTRR):c.1678_1681delGAGA (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
NM_002454.3(MTRR):c.903+469T>C
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1216del (p.Gln406fs)
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.1(FANCG):c.1573del (p.Trp524_Val525insTer)
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.652C>T (p.Gln218Ter) rs1209807088
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter)
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter)
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter)
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys)
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
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.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs)
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_016434.3(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_018062.3(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.3(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.3(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.3(FANCL):c.755_758TCTT[1] (p.Phe253fs) rs1553435610
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018648.3(NOP10):c.122_135delinsCACC (p.Tyr41fs)
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.929dup (p.Val311fs)
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs)
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_032043.2(BRIP1):c.-31+498_187del
NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.2(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.2(BRIP1):c.1052_1055dup (p.Tyr353fs)
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.2(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.2(BRIP1):c.1114_1115delinsA rs587783377
NM_032043.2(BRIP1):c.1126_1127delCA rs587780224
NM_032043.2(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
NM_032043.2(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.2(BRIP1):c.1204_1205insTGTG rs730881647
NM_032043.2(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.2(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.2(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1534G>T (p.Glu512Ter)
NM_032043.2(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.2(BRIP1):c.1594dup (p.Met532fs) rs1339743866
NM_032043.2(BRIP1):c.1618C>T (p.Gln540Ter)
NM_032043.2(BRIP1):c.1622del (p.Asn541fs)
NM_032043.2(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer) rs878855140
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.2(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1916_1917AT[1] (p.Ile640fs) rs1555602127
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.2(BRIP1):c.1993C>T (p.Gln665Ter)
NM_032043.2(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.2(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.2(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.2(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.2(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.2(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2253_2254delGA
NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.2(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.2(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885
NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.2(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.2(BRIP1):c.2589_2590insTACG (p.Val864fs)
NM_032043.2(BRIP1):c.2605C>T (p.Gln869Ter)
NM_032043.2(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.2(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.2(BRIP1):c.2732dup (p.Thr912fs) rs752780954
NM_032043.2(BRIP1):c.2756dup (p.Pro920fs)
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.2(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.2(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.2(BRIP1):c.290_293delACAA rs763009188
NM_032043.2(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.2(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.2(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.441C>G (p.Tyr147Ter)
NM_032043.2(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.2(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.2(BRIP1):c.477_481delAAGAA rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.514A>T (p.Lys172Ter)
NM_032043.2(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.2(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.2(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.2(BRIP1):c.604del (p.Lys201_Ile202insTer)
NM_032043.2(BRIP1):c.608del (p.Asn203fs)
NM_032043.2(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.2(BRIP1):c.633del (p.Gly212fs) rs779466229
NM_032043.2(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.2(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.2(BRIP1):c.7_11del (p.Ser3fs)
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.2(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.2(BRIP1):c.94-7_178dup rs1555618396
NM_032043.2(BRIP1):c.96del (p.Leu33fs)
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter)
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.2(RAD51C):c.(?_-1)_837+?del
NM_058216.2(RAD51C):c.572-?_*(1_?)del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del (p.(?))
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.2(RAD51C):c.966-?_1026+?del
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.179_180CT[1] (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) rs1567786509
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-2A>C rs779582317
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_182916.3(TRNT1):c.324_330del (p.His108fs)
NM_182916.3(TRNT1):c.865del (p.Ser289fs)
NM_198253.2(TERT):c.1044_1045CT[2] (p.Leu350fs) rs1554042899
NM_198253.2(TERT):c.1450G>T (p.Glu484Ter)
NM_198253.2(TERT):c.1685_1686del (p.Tyr562fs)
NM_198253.2(TERT):c.180G>A (p.Trp60Ter) rs1554043139
NM_198253.2(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.2(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.2(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.2(TERT):c.688C>T (p.Arg230Ter)
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter) rs374724805
Single allele

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