ClinVar Miner

List of variants reported as likely pathogenic for Hereditary diffuse gastric adenocarcinoma by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004360.5(CDH1):c.2164+2T>C rs876661120 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NC_000016.10:g.(?_68810187)_(68813505_?)del
NC_000016.10:g.(?_68821991)_(68822235_?)del
NC_000016.10:g.(?_68821995)_(68823632_?)del
NC_000016.9:g.(?_68835563)_(68835806_?)dup
NC_000016.9:g.(?_68835563)_(68847408_?)dup
NC_000016.9:g.(?_68835567)_(68835802_?)dup
NC_000016.9:g.(?_68835567)_(68847404_?)dup
NC_000016.9:g.(?_68840396)_(68842352_?)del
NC_000016.9:g.(?_68842317)_(68847408_?)del
NC_000016.9:g.(?_68842317)_(68849672_?)dup
NC_000016.9:g.(?_68842317)_(68853338_?)dup
NC_000016.9:g.(?_68844221)_(68845020_?)del
NC_000016.9:g.(?_68853177)_(68863706_?)dup
NC_000016.9:g.(?_68855894)_(68857539_?)del
NM_004360.5(CDH1):c.1008+1G>T rs1960844889
NM_004360.5(CDH1):c.1008+2T>C rs1060501237
NM_004360.5(CDH1):c.1008G>A (p.Glu336=) rs267606712
NM_004360.5(CDH1):c.1138-2A>G rs2152133290
NM_004360.5(CDH1):c.1321-1G>A
NM_004360.5(CDH1):c.1321-1G>C rs2152134665
NM_004360.5(CDH1):c.1566-2A>G rs1555516520
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val) rs863224726
NM_004360.5(CDH1):c.163+1G>A rs1962463097
NM_004360.5(CDH1):c.164-1G>A rs1597884512
NM_004360.5(CDH1):c.164-2A>G rs2152126585
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.1711+5G>A rs1131690818
NM_004360.5(CDH1):c.1936+1G>A rs2152138630
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2164+1G>C rs1961238458
NM_004360.5(CDH1):c.2165-1G>A rs1385720097
NM_004360.5(CDH1):c.2165-1G>T rs1385720097
NM_004360.5(CDH1):c.2165-2A>C rs1596970624
NM_004360.5(CDH1):c.2165-2A>G rs1596970624
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.2295+1G>A
NM_004360.5(CDH1):c.2295+1G>C rs1596971108
NM_004360.5(CDH1):c.2444del (p.Leu815fs) rs1596976114
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.388-1G>T
NM_004360.5(CDH1):c.531+1G>A rs1131690808
NM_004360.5(CDH1):c.531+1del
NM_004360.5(CDH1):c.532-1del
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.812_833-564del rs1960785868
NM_004360.5(CDH1):c.832G>A (p.Gly278Arg) rs943875725
NM_004360.5(CDH1):c.833-8_836del rs1567506511

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