List of variants in gene BRCA2 reported as pathogenic by Center of Medical Genetics and Primary Health Care

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	rs80358429
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	rs80358438
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	rs878853559
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs)	rs80359421
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs)	rs1064793413
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)	rs1555284032
NM_000059.4(BRCA2):c.574dup (p.Met192fs)	rs397507802
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs)	rs397507839
NM_000059.4(BRCA2):c.7689del (p.His2563fs)	rs80359674
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)	rs397507419
NM_000059.4(BRCA2):c.9253del (p.Thr3085fs)	rs80359752

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