ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Counsyl

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.739C>T (p.Arg247Ter) rs764321665 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.445_446del (p.Glu149fs) rs1402162002
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942

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.