ClinVar Miner

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

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NC_000016.10:g.(?_68737292)_(68738411_?)del
NC_000016.10:g.(?_68737292)_(68835537_?)del
NM_004360.4:c.(1008+1_1009-1)_(1711+1_1712-1)del
NM_004360.4:c.(1320+1_1321-1)_(1711+1_1712-1)del
NM_004360.4:c.(1565+1_1566-1)_(1711+1_1712-1)del
NM_004360.4:c.(1565+1_1566-1)_(2164+1_2165-1)del
NM_004360.4:c.(163+1_164-1)_(1137+1_1138-1)del
NM_004360.4:c.(163+1_164-1)_(387+1_388-1)del
NM_004360.4:c.(387+1_388-1)_(1711+1_1712-1)dup
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter) rs878854676
NM_004360.5(CDH1):c.1056del (p.Glu353fs)
NM_004360.5(CDH1):c.1135_1137+5delinsTTAGA
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1141A>T (p.Lys381Ter)
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1264C>T (p.Gln422Ter)
NM_004360.5(CDH1):c.1401del (p.Thr468fs)
NM_004360.5(CDH1):c.1404del (p.Ser469fs)
NM_004360.5(CDH1):c.1416dup (p.Val473fs)
NM_004360.5(CDH1):c.1466dup (p.Pro489_Glu490insTer)
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs) rs876659208
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter) rs1596960298
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter) rs1596960368
NM_004360.5(CDH1):c.1612del (p.Asp538fs) rs1555516545
NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1746dup (p.Leu583fs) rs1131690817
NM_004360.5(CDH1):c.1786G>T (p.Glu596Ter)
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) rs587783047
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.1906_1907insA (p.Ala636fs)
NM_004360.5(CDH1):c.1965del (p.Met656fs)
NM_004360.5(CDH1):c.2031del (p.Gln677_Val678insTer)
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.208dup (p.Ser70fs) rs1555514406
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
NM_004360.5(CDH1):c.2116C>T (p.Gln706Ter)
NM_004360.5(CDH1):c.2164+2T>A
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
NM_004360.5(CDH1):c.2386del (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.281_283delinsGT (p.Pro94fs)
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter) rs781409616
NM_004360.5(CDH1):c.2T>C (p.Met1Thr) rs1555509623
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter) rs1555514464
NM_004360.5(CDH1):c.31del (p.Leu11fs) rs2152113974
NM_004360.5(CDH1):c.322del (p.Arg108fs)
NM_004360.5(CDH1):c.326del (p.Lys109fs)
NM_004360.5(CDH1):c.336del (p.Val114fs)
NM_004360.5(CDH1):c.360del (p.His121fs) rs878854690
NM_004360.5(CDH1):c.377del (p.Pro126fs) rs1060501215
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.416del (p.Leu139fs)
NM_004360.5(CDH1):c.45_46insT (p.Gln16fs)
NM_004360.5(CDH1):c.479_480del (p.Pro160fs)
NM_004360.5(CDH1):c.48+1G>A rs1440280370
NM_004360.5(CDH1):c.489C>A (p.Cys163Ter) rs1064794230
NM_004360.5(CDH1):c.48G>A (p.Gln16=) rs749591910
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.497dup (p.Asn166fs)
NM_004360.5(CDH1):c.521del (p.Asn174fs)
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.55_74del (p.Ser19fs)
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter) rs761753486
NM_004360.5(CDH1):c.586G>T (p.Gly196Ter)
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) rs121964875
NM_004360.5(CDH1):c.639del (p.Trp213fs)
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter) rs1962456814
NM_004360.5(CDH1):c.688-1G>C
NM_004360.5(CDH1):c.696_697del (p.His233fs) rs1060501214
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.811_812delinsTTAAGGGATATA (p.Val271fs)
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.86dup (p.His29fs)
NM_004360.5(CDH1):c.971del (p.Gly324fs)

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