List of variants in gene BRCA1 reported by 3DMed Clinical Laboratory Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	rs80357498	0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)	rs80357244	0.00003
NM_007294.4(BRCA1):c.4358-2773A>G	rs750825948	0.00001
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)	rs80357481
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)	rs80357167
NM_007294.4(BRCA1):c.1769_1771del (p.Ser590del)	rs1555591267
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	rs80357522
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)	rs80357522
NM_007294.4(BRCA1):c.1966A>T (p.Asn656Tyr)	rs786203455
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)	rs28897681
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)	rs80357234
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs)	rs80357912
NM_007294.4(BRCA1):c.3059del (p.Pro1020fs)	rs1555588460
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)	rs80357787
NM_007294.4(BRCA1):c.4271A>G (p.Gln1424Arg)	rs1555584133
NM_007294.4(BRCA1):c.4456A>T (p.Ser1486Cys)	rs397507232
NM_007294.4(BRCA1):c.4484+2T>C	rs1555582520
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)	rs80357303
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)	rs80357243
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)	rs1057517590
NM_007294.4(BRCA1):c.5172dup (p.Glu1725fs)	rs1555578360
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA	rs80357973
NM_007294.4(BRCA1):c.80+1G>A	rs80358010
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)	rs80357772

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