ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838
NM_007294.4(BRCA1):c.2075A>C (p.His692Pro)
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys) rs80357335
NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu) rs757383244
NM_007294.4(BRCA1):c.252_254del (p.Glu85del) rs1064797221
NM_007294.4(BRCA1):c.3341_3343AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3415_3417AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) rs80356944
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val) rs879254228
NM_007294.4(BRCA1):c.4154T>C (p.Leu1385Pro) rs1597858317
NM_007294.4(BRCA1):c.4223A>G (p.Gln1408Arg) rs1555584227
NM_007294.4(BRCA1):c.429A>C (p.Glu143Asp) rs397507228
NM_007294.4(BRCA1):c.4369T>A (p.Ser1457Thr)
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) rs757726297
NM_007294.4(BRCA1):c.4597G>T (p.Asp1533Tyr) rs899108857
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.4(BRCA1):c.5074+7C>T rs1597825506
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5586C>T (p.His1862=) rs774127304
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138

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.