ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Genologica Medica

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Total variants: 36
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HGVS dbSNP
NM_000059.3(BRCA2):c.1302_1305AAGA[2] (p.Lys437fs) rs80359277
NM_000059.3(BRCA2):c.1308_1309del (p.Lys437fs) rs786201950
NM_000059.3(BRCA2):c.1792del (p.Thr598fs) rs886040389
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.2634_2635CT[1] (p.Asp878_Ser879insTer) rs276174826
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.293T>G (p.Leu98Ter) rs1085308035
NM_000059.3(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395
NM_000059.3(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.3(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638
NM_000059.3(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.3(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.3(BRCA2):c.5558_5559GT[1] (p.Val1854fs) rs397507787
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5669_5673del (p.Met1890fs) rs876660311
NM_000059.3(BRCA2):c.5718_5719CT[1] (p.Asn1906_Ser1907insTer) rs80359530
NM_000059.3(BRCA2):c.6024dupG (p.Gln2009Alafs) rs80359554
NM_000059.3(BRCA2):c.6034del (p.Ser2012fs) rs397507823
NM_000059.3(BRCA2):c.6209_6212del (p.Glu2070fs) rs276174866
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.6482_6485ACAA[1] (p.Lys2162fs) rs80359598
NM_000059.3(BRCA2):c.6596del (p.Thr2199fs) rs876658294
NM_000059.3(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.3(BRCA2):c.6650_6654del (p.Lys2217fs) rs1085308037
NM_000059.3(BRCA2):c.6652del (p.Asp2218fs) rs1085308038
NM_000059.3(BRCA2):c.67+2T>C rs81002885
NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.3(BRCA2):c.7926del (p.Phe2642fs) rs397507944
NM_000059.3(BRCA2):c.793+1G>T rs81002846
NM_000059.3(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.3(BRCA2):c.8988_8990delinsTT (p.Leu2996fs) rs397508027
NM_000059.3(BRCA2):c.9018C>A (p.Tyr3006Ter) rs80359154
NM_000059.3(BRCA2):c.9026_9030del (p.Tyr3009fs) rs80359741
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9274del (p.Tyr3092fs) rs397507424
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212

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