List of variants in gene BRCA2 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	rs80359550	0.00019
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)	rs80359212	0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	rs11571658	0.00003
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	rs80359541	0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	rs28897759	0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	rs730881619	0.00001
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	rs587781471
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)	rs80359451
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	rs80359462
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	rs80359479
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)	rs80358809
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)	rs80358851
NM_000059.4(BRCA2):c.67+1G>C	rs81002796
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)	rs80359641
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)	rs397508010
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)	rs80359741
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	rs80359775

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