ClinVar Miner

List of variants studied for colorectal cancer, hereditary nonpolyposis, type 8

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP
NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) rs543584983
NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) rs147494515
NM_002354.2(EPCAM):c.426-20A>G rs6744170
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) rs200676965
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002354.2(EPCAM):c.859-7C>T rs72882786
NR_030286.1(MIR559):n.278_23134del

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