ClinVar Miner

List of variants in gene CDH1 reported as likely pathogenic for hereditary diffuse gastric adenocarcinoma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
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_000016.10:g.(?_68833290)_(68835537_?)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.1008+2T>G
NM_004360.5(CDH1):c.1008+2_1008+4del
NM_004360.5(CDH1):c.1008G>A (p.Glu336=) rs267606712
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter) rs1597838625
NM_004360.5(CDH1):c.1128_1137+1delinsGGAGT
NM_004360.5(CDH1):c.1137+2T>A
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1137G>T (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1138-2A>G rs2152133290
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1298_1320+12del
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1319del (p.Lys440fs)
NM_004360.5(CDH1):c.1320+1G>A
NM_004360.5(CDH1):c.1320+1G>C rs886039685
NM_004360.5(CDH1):c.1321-1G>A
NM_004360.5(CDH1):c.1321-1G>C rs2152134665
NM_004360.5(CDH1):c.1321-1G>T
NM_004360.5(CDH1):c.1321-6_1324del
NM_004360.5(CDH1):c.1321-9_1331dup
NM_004360.5(CDH1):c.139_163+18del
NM_004360.5(CDH1):c.152_163+11del
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004360.5(CDH1):c.1565+1G>C rs587780113
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+1del rs1064795267
NM_004360.5(CDH1):c.1565+2dup rs1555516200
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.163+2T>C
NM_004360.5(CDH1):c.164-1G>A rs1597884512
NM_004360.5(CDH1):c.164-21_288del
NM_004360.5(CDH1):c.164-2A>G rs2152126585
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1711+1G>A rs886041161
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711+1G>T
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.1711+5G>A rs1131690818
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1936+1G>A rs2152138630
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.1982dup (p.Gly661_Asp662insTer)
NM_004360.5(CDH1):c.1A>G (p.Met1Val) rs1555509622
NM_004360.5(CDH1):c.2062del (p.Cys688fs)
NM_004360.5(CDH1):c.2164+1G>A
NM_004360.5(CDH1):c.2164+1G>C rs1961238458
NM_004360.5(CDH1):c.2164+1_2164+2del
NM_004360.5(CDH1):c.2164+1del
NM_004360.5(CDH1):c.2164+5G>A
NM_004360.5(CDH1):c.2165-1G>A rs1385720097
NM_004360.5(CDH1):c.2165-1G>C 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.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2295+1G>A
NM_004360.5(CDH1):c.2295+1G>C rs1596971108
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2439+1G>T rs1567516230
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.2440-396_*223del
NM_004360.5(CDH1):c.2444del (p.Leu815fs) rs1596976114
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2461_2467del (p.Asp821fs)
NM_004360.5(CDH1):c.2488_2489dup (p.Leu831fs)
NM_004360.5(CDH1):c.2505_2506dup (p.Glu836fs) rs1555518236
NM_004360.5(CDH1):c.2520del (p.Glu841fs)
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.2T>G (p.Met1Arg) rs1555509623
NM_004360.5(CDH1):c.388-1G>T
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.49-1G>C
NM_004360.5(CDH1):c.49-1G>T
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.531+1G>A rs1131690808
NM_004360.5(CDH1):c.531+1G>C rs1131690808
NM_004360.5(CDH1):c.531+1G>T rs1131690808
NM_004360.5(CDH1):c.531+1del
NM_004360.5(CDH1):c.531+2T>C
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.532-1del
NM_004360.5(CDH1):c.532-2A>C
NM_004360.5(CDH1):c.532-2A>G
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.687+1G>T rs1567504977
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.812_833-564del rs1960785868
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.832G>A (p.Gly278Arg) rs943875725
NM_004360.5(CDH1):c.833-2A>C
NM_004360.5(CDH1):c.833-2A>G rs1555515596
NM_004360.5(CDH1):c.833-476_1138-463del
NM_004360.5(CDH1):c.833-8_836del rs1567506511

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