ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by Center of Medical Genetics and Primary Health Care

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.992A>G (p.Asp331Gly) rs150008448 0.00120
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_000249.4(MLH1):c.954C>A (p.His318Gln) rs146777069
NM_007294.4(BRCA1):c.5191G>A (p.Glu1731Lys) rs397507244

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