List of variants in gene BRCA2 reported as pathogenic by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	rs80358981	0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)	rs41293511	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	rs80359773	0.00001
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	rs80359306
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	rs80359405
NM_000059.4(BRCA2):c.516+2T>A	rs397507764
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)	rs80359575
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	rs80359584
NM_000059.4(BRCA2):c.7863T>A (p.Tyr2621Ter)	rs276174896
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	rs80359027
NM_000059.4(BRCA2):c.8580del (p.Arg2861fs)
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)	rs80359763

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