ClinVar Miner

List of variants reported as likely pathogenic by Genomic Center, National Cancer Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1508del (p.Lys503fs) rs886038066
NM_000059.4(BRCA2):c.2514del (p.Lys838fs) rs886040433
NM_000059.4(BRCA2):c.3440del (p.Asn1147fs)
NM_000059.4(BRCA2):c.3935del (p.Asn1312fs)
NM_000059.4(BRCA2):c.3956del (p.Asn1319fs) rs2137501511
NM_000059.4(BRCA2):c.4468del (p.Ile1490fs)
NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer) rs80359471
NM_000059.4(BRCA2):c.4997del (p.Asn1666fs)
NM_000059.4(BRCA2):c.7340del (p.Asn2447fs) rs786204281
NM_000059.4(BRCA2):c.7654del (p.Ile2552fs) rs879255463
NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)
NM_000059.4(BRCA2):c.937del (p.Ser313fs) rs2137466022
NM_000059.4(BRCA2):c.9799_9800del (p.Lys3267fs)
NM_000059.4(BRCA2):c.9981del (p.Lys3327fs)
NM_001903.5(CTNNA1):c.1479del (p.Lys493fs) rs1762114658
NM_001903.5(CTNNA1):c.1559del (p.Leu520fs) rs2150287805
NM_001903.5(CTNNA1):c.2213del (p.Asn738fs) rs2150336916
NM_001903.5(CTNNA1):c.235del (p.Ile79fs) rs2149656665
NM_007294.4(BRCA1):c.1015_1016del (p.Lys339fs)
NM_007294.4(BRCA1):c.2857del (p.Cys953fs) rs397509019
NM_007294.4(BRCA1):c.4526del (p.Tyr1509fs) rs2154020080
NM_013266.4(CTNNA3):c.2568del (p.Lys856fs) rs759618368

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.