ClinVar Miner

List of variants reported as likely benign for DNA repair disease by Mendelics

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr) rs551602980 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.1155-29A>G rs759352163 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_002485.5(NBN):c.1902T>G (p.Ala634=) rs876660052 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
NM_002485.5(NBN):c.320+40G>T rs749797574
NM_002485.5(NBN):c.584+7T>A rs1057523869
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241

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.