ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.4358-2725T>C rs374519494 0.00011
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg) rs373655067 0.00003
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly) rs80357194 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro) rs397508915 0.00001
NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly) rs780367532 0.00001
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser) rs863224758 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr) rs1369043501 0.00001
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu) rs398122691 0.00001
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys) rs1555593290 0.00001
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_007294.4(BRCA1):c.*58C>T rs137892861
NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn) rs756987689
NM_007294.4(BRCA1):c.103G>T (p.Val35Phe) rs879255284
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.135-5T>C rs587781916
NM_007294.4(BRCA1):c.1350A>T (p.Lys450Asn) rs1597876640
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn) rs786203044
NM_007294.4(BRCA1):c.1951A>C (p.Lys651Gln) rs1555590804
NM_007294.4(BRCA1):c.1997T>C (p.Leu666Pro) rs1567797346
NM_007294.4(BRCA1):c.213-14C>G rs1060502337
NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala) rs1567796585
NM_007294.4(BRCA1):c.2614T>G (p.Phe872Val) rs2053728394
NM_007294.4(BRCA1):c.296T>C (p.Leu99Ser) rs1567811021
NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser) rs1567793123
NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr) rs4986852
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala) rs80357312
NM_007294.4(BRCA1):c.372C>G (p.Ile124Met) rs273900715
NM_007294.4(BRCA1):c.391A>G (p.Arg131Gly) rs80357207
NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly) rs876660809
NM_007294.4(BRCA1):c.4354A>G (p.Lys1452Glu) rs398122685
NM_007294.4(BRCA1):c.4390C>A (p.Pro1464Thr) rs1259139517
NM_007294.4(BRCA1):c.4396A>T (p.Ser1466Cys) rs1064794830
NM_007294.4(BRCA1):c.4574A>G (p.Gln1525Arg) rs786203386
NM_007294.4(BRCA1):c.4664G>C (p.Arg1555Thr) rs786202165
NM_007294.4(BRCA1):c.4724C>A (p.Pro1575His) rs80357052
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly) rs80356930
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5193+11G>T rs1567768534
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=) rs1555576963
NM_007294.4(BRCA1):c.521A>C (p.Gln174Pro) rs1567806035
NM_007294.4(BRCA1):c.5277+7C>T rs1597810359
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5425_5430del (p.Val1809_Val1810del) rs80358348
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly) rs80357451
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln) rs1597796507
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn) rs202168814
NM_007294.4(BRCA1):c.69G>C (p.Glu23Asp) rs766004110
NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr) rs80357293
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg) rs80357225
NM_007294.4(BRCA1):c.862A>G (p.Ser288Gly) rs1597879544
NM_007294.4(BRCA1):c.932C>G (p.Pro311Arg) rs1301795658

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.