ClinVar Miner

List of variants reported for Hereditary breast ovarian cancer syndrome by CSER _CC_NCGL, University of Washington

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.4358-2786G>A rs374435098 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile) rs756411508 0.00001
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr) rs398122649 0.00001
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg) rs56245590
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs) rs80359679
NM_000059.4(BRCA2):c.8447G>C (p.Gly2816Ala) rs56096120
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4357G>T (p.Ala1453Ser) rs1555583984
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489

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