ClinVar Miner

List of variants in gene BRCA2 reported by GenomeConnect, ClinGen

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg) rs397507280 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg) rs587781418 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp) rs876660403 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys) rs1555287788
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779

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