List of variants reported as pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	rs80357123	0.00003
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)	rs80356945
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)	rs80357636
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	rs80356978
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)	rs80357829
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)	rs80356903
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	rs28897686
NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)	rs80357616
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.5074+3A>G	rs80358181
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)	rs80357227
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5277+1G>A	rs80358150
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)	rs80357212

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