List of variants in gene BRCA1 reported as pathogenic by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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: 27

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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.5251C>T (p.Arg1751Ter)	rs80357123	0.00003
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)	rs80357970	0.00001
NM_007294.4(BRCA1):c.4357+1G>A	rs80358027	0.00001
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)	rs80357366	0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)	rs80357569
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	rs80357164
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)	rs80357969
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	rs80357662
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)	rs80357567
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)	rs80357086
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)	rs80357526
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)	rs80357082
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	rs80356978
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)	rs80357540
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)	rs80357829
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)	rs80357749
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)	rs80359876
NM_007294.4(BRCA1):c.4986+6T>G	rs80358086
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)	rs80356974
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	rs80357867
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)	rs387906563

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