ClinVar Miner

List of variants reported as likely pathogenic for Hereditary diffuse gastric adenocarcinoma by European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_68737292)_(68737463_?)del
NC_000016.10:g.(?_68833290)_(68835537_?)del
NM_004360.5(CDH1):c.1008+2T>G
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
NM_004360.5(CDH1):c.2062del (p.Cys688fs)
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2440-396_*223del
NM_004360.5(CDH1):c.2520del (p.Glu841fs)
NM_004360.5(CDH1):c.49-1G>C
NM_004360.5(CDH1):c.833-476_1138-463del

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