ClinVar Miner

List of variants reported as uncertain significance for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg) rs397509229 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser) rs398122658 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser) rs786202106 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.-42T>G rs544342552
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly) rs80356964
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.1596A>T (p.Ile532=) rs1555591508
NM_007294.4(BRCA1):c.3078T>G (p.Ile1026Met) rs1555588422
NM_007294.4(BRCA1):c.5236C>T (p.His1746Tyr) rs80357146
NM_007294.4(BRCA1):c.5278-6T>C rs1555575746
NM_007294.4(BRCA1):c.5356C>T (p.Leu1786=) rs1555575167

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