ClinVar Miner

List of variants studied for Breast carcinoma by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000535.7(PMS2):c.834T>A (p.His278Gln) rs2128776000
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)

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