ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by 3DMed Clinical Laboratory Inc

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000059.3(BRCA2):c.2595delA (p.Glu866Lysfs) rs483353111
NM_000059.3(BRCA2):c.2828_2831delTTAA (p.Ile943Lysfs) rs397507643
NM_000059.3(BRCA2):c.2845delT (p.Tyr949Metfs) rs397507644
NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.3(BRCA2):c.5879del (p.Cys1960Leufs) rs1555284442
NM_000059.3(BRCA2):c.6085G>T (p.Glu2029Ter) rs397507828
NM_000059.3(BRCA2):c.6255_6258del (p.Ile2086Glufs) rs1555284612
NM_000059.3(BRCA2):c.6405_6409delCTTAA (p.Asn2135Lysfs) rs80359584
NM_000059.3(BRCA2):c.6408_6414delAAATGTT (p.Asn2137Lysfs) rs397507851
NM_000059.3(BRCA2):c.7065_7066insT (p.Leu2357Serfs) rs397507894
NM_000059.3(BRCA2):c.9053_9057delGTAAA (p.Ser3018Ilefs) rs869320800
NM_000059.3(BRCA2):c.994dupA (p.Ile332Asnfs) rs80359777

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