ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Genetics Program, Instituto Nacional de Cancer

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.3(BRCA2):c.156_157insAlu
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter) rs786202461
NM_000059.4(BRCA2):c.8247_8248del (p.Lys2750fs) rs80359701
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8940del (p.Glu2981fs) rs80359732

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