List of variants in gene BRCA1 reported as pathogenic by Eurofins NTD LLC (GA)

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_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00004
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)	rs80356989	0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)	rs80359874
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)	rs80357859
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	rs80357287
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)	rs80357688
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)	rs80357669
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)	rs80357207
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)	rs80357623
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	rs80357783
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914

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