ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Division Human Genetics,Medical University Innsbruck

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3172A>T (p.Lys1058Ter) rs730881521
NM_000059.3(BRCA2):c.3283C>T (p.Gln1095Ter) rs397507662
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.3915del (p.Phe1305fs) rs397507698
NM_000059.3(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505
NM_000059.3(BRCA2):c.5390del (p.Ala1797fs) rs730882168
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.3(BRCA2):c.5952dup (p.Ser1985fs) rs397507814
NM_000059.3(BRCA2):c.6202dup (p.Ile2068fs) rs397507833
NM_000059.3(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.3(BRCA2):c.712G>T (p.Glu238Ter) rs56383036
NM_000059.3(BRCA2):c.7266T>A (p.Cys2422Ter) rs730882169
NM_000059.3(BRCA2):c.7846del (p.Ser2616fs) rs397507940
NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.9117+1G>A rs81002802
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212

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