ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His) rs786202839 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.8414T>C (p.Leu2805Ser) rs397507983 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) rs553440338 0.00001
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile) rs749624669
NM_000059.4(BRCA2):c.425+3A>G rs932657676
NM_000059.4(BRCA2):c.464G>T (p.Arg155Ile) rs377639990
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val) rs878853593
NM_000059.4(BRCA2):c.6844G>A (p.Glu2282Lys) rs1555285137
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile) rs1593918551
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770

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