List of variants in gene combination BRCA1, LOC126862571 reported as likely pathogenic for Hereditary breast ovarian cancer syndrome

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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
NC_000017.10:g.(?_41234401)_(41258570_?)dup
NC_000017.10:g.(?_41234415)_(41258556_?)dup
NM_007294.4(BRCA1):c.2990_3971dup (p.Met1324delinsIleSerAlaArgGlyLysLeuTer)	rs2053492284
NM_007294.4(BRCA1):c.3253_3254insAA (p.Arg1085fs)
NM_007294.4(BRCA1):c.3255_3256del (p.Arg1085fs)	rs2053618983
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)	rs80357686
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)	rs1555587638
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)	rs797044631
NM_007294.4(BRCA1):c.3761_3764del (p.Lys1254fs)	rs2053528623
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs)	rs2053509532
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)	rs80357343
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter)	rs2053486046

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