ClinVar Miner

List of variants reported as pathogenic for Hereditary cancer-predisposing syndrome by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_000455.4(STK11):c.(?_-1)_920+?del
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) rs869312782
NM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs) rs869312771
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004329.2(BMPR1A):c.-152-?_1473+?del
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs) rs869312783
NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile) rs869312758
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer) rs1555515731
NM_004360.5(CDH1):c.1505del (p.Gly502fs) rs869312765
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter) rs869312757
NM_005359.5(SMAD4):c.(?_-538)_1139+?del
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.3202-?_*(1_?)del
NM_024675.4(PALB2):c.1163del (p.Pro388fs) rs869312772
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) rs869312774
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134

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.