ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000059.3(BRCA2):c.1302_1305AAGA[2] (p.Lys437fs) rs80359277
NM_000059.3(BRCA2):c.156_157insAlu
NM_000059.3(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638
NM_000059.3(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711
NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) rs80359530
NM_000059.3(BRCA2):c.5723_5727del (p.Leu1908fs) rs794727014
NM_000059.3(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.3(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6727_6728insAT (p.Ser2243fs) rs1566235284
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972
NM_000059.3(BRCA2):c.9118-1G>A rs886040950
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212

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