ClinVar Miner

List of variants reported as uncertain significance for breast-ovarian cancer, familial, susceptibility to, 1 by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
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.2299A>G (p.Ser767Gly) rs80357194 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.3092T>G (p.Ile1031Ser) rs863224758 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr) rs1369043501 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.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.3047A>G (p.Asn1016Ser) rs1567793123
NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr) rs4986852
NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser) rs1340335862
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser) rs397507219
NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly) rs876660809
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.5277+7C>T rs1597810359
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
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.862A>G (p.Ser288Gly) rs1597879544

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