ClinVar Miner

List of variants in gene BRCA1 reported by Institute of Human Genetics, Medical University Innsbruck

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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.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.(5193+1_5194-1)_(5277+1_5278-1)del
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs) rs80357516
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs) rs80357861
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter) rs730882165
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5167delinsTTT (p.Ile1723fs) rs730882167
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941

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