ClinVar Miner

List of variants reported for Hereditary cancer by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser) rs1057518894
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847

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