ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter) rs1566233919
NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs) rs1566234560
NM_000059.4(BRCA2):c.8808del (p.Asn2937fs) rs1566252592
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_004360.5(CDH1):c.2165-1G>T rs1385720097
NM_004360.5(CDH1):c.531+1G>T rs1131690808
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) rs1567217898
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) rs1567209835
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539

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