ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 29
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HGVS dbSNP
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.3(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.3(BRCA1):c.2397T>A (p.Asn799Lys) rs80357203
NM_007294.3(BRCA1):c.242A>T (p.Gln81Leu) rs886040862
NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2870A>C (p.Gln957Pro) rs1567793946
NM_007294.3(BRCA1):c.2930C>T (p.Pro977Leu) rs141465583
NM_007294.3(BRCA1):c.302_441dup rs1567810007
NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser) rs80357247
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.381T>G (p.Ser127Arg) rs945168715
NM_007294.3(BRCA1):c.4060_4062AAT[1] (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4885dup (p.Glu1629fs) rs886040254
NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.3(BRCA1):c.4955T>A (p.Met1652Lys) rs80356968
NM_007294.3(BRCA1):c.4987-4del rs1567772535
NM_007294.3(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.954T>A (p.His318Gln) rs1135401826
NM_007299.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102

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