ClinVar Miner

List of variants in gene BRCA1 reported as uncertain significance by Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr) rs757579891 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu) rs80357220
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro) rs876658221
NM_007294.4(BRCA1):c.4189A>C (p.Arg1397=) rs886037792
NM_007294.4(BRCA1):c.4704C>T (p.Ile1568=) rs886037793
NM_007294.4(BRCA1):c.4787C>T (p.Ser1596Leu) rs80357429
NM_007294.4(BRCA1):c.4803A>G (p.Lys1601=) rs886037794
NM_007294.4(BRCA1):c.5562del (p.Ile1855fs) rs886037795
NM_007294.4(BRCA1):c.744C>G (p.Thr248=) rs886037791

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