List of variants reported as likely pathogenic for DNA repair disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 126

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HGVS	dbSNP	gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	rs753182861	0.00012
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)	rs148393161	0.00004
NM_000136.3(FANCC):c.521+1G>A	rs145394391	0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	rs778865255	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	rs371897078	0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs)	rs886039646	0.00003
NM_002485.5(NBN):c.897-2A>T	rs864622090	0.00003
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	rs730881709	0.00002
NM_000136.3(FANCC):c.843+1G>A	rs587779909	0.00002
NM_000400.4(ERCC2):c.1479+2dup	rs776705174	0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)	rs745930696	0.00002
NM_002485.5(NBN):c.37+1G>A	rs574673404	0.00002
NM_004628.5(XPC):c.2033+1G>A	rs764480429	0.00002
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)	rs370657735	0.00001
NM_000122.2(ERCC3):c.657+1G>A	rs56116802	0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)	rs899478069	0.00001
NM_000124.4(ERCC6):c.1526+1G>T	rs371739894	0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_000136.3(FANCC):c.996+1G>T	rs370510954	0.00001
NM_000400.4(ERCC2):c.595-10G>A	rs761737358	0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)	rs778289599	0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)	rs1385885533	0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	rs730881864	0.00001
NM_002485.5(NBN):c.2184+1G>T	rs756363734	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs)	rs758708229	0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val)	rs763678756	0.00001
NM_005236.3(ERCC4):c.1102+1G>T	rs1314323456	0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)	rs761291501	0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)	rs1265030199	0.00001
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000003.11:g.14187530_(14190449_14193834)del
NC_000005.9:g.(60200701_60214091)_(60240906_?)del
NC_000005.9:g.(?_60169658)_(60183348_60186715)del
NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)	rs2112491212
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)	rs1325131028
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)	rs777455688
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)	rs368728467
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)	rs1590406503
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)	rs2132639937
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)	rs1272960343
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)	rs2039844868
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)	rs2143367693
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	rs1555536390
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)	rs984285795
NM_000135.4(FANCA):c.427-3C>G	rs2040847223
NM_000136.3(FANCC):c.1155-1G>C	rs1554829575
NM_000136.3(FANCC):c.1533+1G>T	rs753885687
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	rs794726667
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	rs730881731
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	rs1564720637
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	rs730881708
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.996+1G>A	rs370510954
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)	rs1451780491
NM_000380.4(XPA):c.666dup (p.Val223fs)	rs1554701103
NM_000380.4(XPA):c.673+1G>A	rs2131393093
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)	rs750123656
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)	rs376556895
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2190+1del	rs1476160722
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.1827+1G>C	rs761074497
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)	rs2125032674
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)	rs1223055462
NM_001113378.2(FANCI):c.1512+1G>A	rs2151551135
NM_001113378.2(FANCI):c.295del (p.His99fs)	rs759398314
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)	rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)	rs770318990
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)	rs760412752
NM_002485.5(NBN):c.1515del (p.Glu505fs)	rs759232053
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)	rs1554558449
NM_002485.5(NBN):c.2071-1G>A	rs786201965
NM_002485.5(NBN):c.317dup (p.Arg107fs)	rs745355767
NM_002485.5(NBN):c.737del (p.Gly246fs)	rs1811464751
NM_002485.5(NBN):c.803del (p.Thr268fs)
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)	rs1696002966
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)	rs370126012
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_005236.3(ERCC4):c.1214-1G>A
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)	rs1554098250
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter)	rs876660364
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)	rs1490932431
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.430del (p.Ser144fs)	rs869320685
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)	rs755938406
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	rs753272712
NM_032043.3(BRIP1):c.1473+1G>T	rs748274524
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	rs45459799

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