ClinVar Miner

List of variants in gene BRCA1 reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=) rs28897692 0.00008
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val) rs561988641 0.00002
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp) rs397509275 0.00001
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser) rs397507202
NM_007294.4(BRCA1):c.4177A>G (p.Thr1393Ala) rs587782870
NM_007294.4(BRCA1):c.494T>C (p.Leu165Pro) rs2154528996
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244

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