ClinVar Miner

List of variants in gene CDH1 reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_004360.5(CDH1):c.1003dup (p.Arg335fs)
NM_004360.5(CDH1):c.1008+1G>A rs1960844889
NM_004360.5(CDH1):c.1008G>A (p.Glu336=) rs267606712
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys) rs876661091
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer) rs1555515731
NM_004360.5(CDH1):c.1064dup (p.Leu355fs) rs1555515731
NM_004360.5(CDH1):c.1085del (p.Val362fs) rs1555515739
NM_004360.5(CDH1):c.1107del (p.Asn369fs) rs1567507138
NM_004360.5(CDH1):c.1131del (p.Thr378fs) rs1131690812
NM_004360.5(CDH1):c.1132_1133del (p.Thr378fs)
NM_004360.5(CDH1):c.1137+1del rs876659446
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter) rs1962423346
NM_004360.5(CDH1):c.1212del (p.Asn405fs) rs1597895871
NM_004360.5(CDH1):c.1212dup (p.Asn405fs) rs1597895871
NM_004360.5(CDH1):c.1214_1221del (p.Asn405fs)
NM_004360.5(CDH1):c.1237_1238dup (p.Ile415fs) rs1131690811
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs) rs876658865
NM_004360.5(CDH1):c.1261G>T (p.Gly421Ter)
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1309A>T (p.Lys437Ter)
NM_004360.5(CDH1):c.1341del (p.Lys447fs) rs1555516089
NM_004360.5(CDH1):c.1373del (p.Asn458fs) rs1960960044
NM_004360.5(CDH1):c.1386dup (p.Glu463Ter)
NM_004360.5(CDH1):c.1390del (p.Val464fs) rs1555516111
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs) rs1597897893
NM_004360.5(CDH1):c.1401dup (p.Thr468fs)
NM_004360.5(CDH1):c.1408del (p.Thr470fs) rs1131690821
NM_004360.5(CDH1):c.140_155delinsCGA (p.Glu47fs)
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs) rs1567508939
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs) rs876659208
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter) rs778871891
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs) rs876658261
NM_004360.5(CDH1):c.1500_1501delinsA (p.Val501fs)
NM_004360.5(CDH1):c.1505del (p.Gly502fs) rs869312765
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter) rs1131690810
NM_004360.5(CDH1):c.1562del (p.Ile521fs)
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+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter) rs876659716
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter) rs1596960298
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter) rs1596960368
NM_004360.5(CDH1):c.1600G>T (p.Glu534Ter)
NM_004360.5(CDH1):c.1605del (p.Asn536fs) rs1596960393
NM_004360.5(CDH1):c.163+1G>A rs1962463097
NM_004360.5(CDH1):c.1636del (p.Ala546fs) rs1555516556
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs) rs1555516567
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
NM_004360.5(CDH1):c.1711+1G>A 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.172G>T (p.Glu58Ter)
NM_004360.5(CDH1):c.1746dup (p.Leu583fs) rs1131690817
NM_004360.5(CDH1):c.1779dup (p.Ile594fs) rs876661118
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.182_183delinsGTG (p.Thr61fs)
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) rs587783047
NM_004360.5(CDH1):c.1893dup (p.His632fs) rs1596963827
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.1948_1949del (p.Ile650fs) rs1555517074
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer) rs730881653
NM_004360.5(CDH1):c.1999del (p.Leu667fs) rs786202033
NM_004360.5(CDH1):c.1A>G (p.Met1Val) rs1555509622
NM_004360.5(CDH1):c.2029dup (p.Gln677fs) rs1555517100
NM_004360.5(CDH1):c.202del (p.Tyr68fs) rs786202151
NM_004360.5(CDH1):c.2056_2059del (p.Cys686fs)
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2071dup (p.Ala691fs)
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter) rs149127230
NM_004360.5(CDH1):c.2155dup (p.Ala719fs)
NM_004360.5(CDH1):c.2165-1G>C rs1385720097
NM_004360.5(CDH1):c.217dup (p.Thr73fs) rs1597884637
NM_004360.5(CDH1):c.2186_2196del (p.Leu729fs) rs1596970676
NM_004360.5(CDH1):c.2188_2189delinsCTCCTCC (p.Phe730fs)
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.220del (p.Arg74fs)
NM_004360.5(CDH1):c.2262C>A (p.Tyr754Ter) rs1596970988
NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter) rs876658944
NM_004360.5(CDH1):c.2276del (p.Gly759fs) rs1555517680
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter) rs587780787
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter) rs876658575
NM_004360.5(CDH1):c.2296-1G>A rs1057517542
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.2306T>A (p.Leu769Ter)
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter) rs1131690813
NM_004360.5(CDH1):c.2324del (p.Gly775fs) rs1060501248
NM_004360.5(CDH1):c.2329_2341del (p.Asp777fs)
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
NM_004360.5(CDH1):c.2386del (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.261del (p.Arg87fs) rs1555514429
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.303C>A (p.Tyr101Ter)
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter) rs1555514464
NM_004360.5(CDH1):c.315del (p.Thr106fs) rs1064795703
NM_004360.5(CDH1):c.322del (p.Arg108fs)
NM_004360.5(CDH1):c.376_382dup (p.His128fs) rs1567501500
NM_004360.5(CDH1):c.377del (p.Pro126fs) rs1060501215
NM_004360.5(CDH1):c.377dup (p.Pro127fs) rs1060501215
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.3G>A (p.Met1Ile) rs878854691
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs) rs1131690815
NM_004360.5(CDH1):c.456del (p.Lys153fs)
NM_004360.5(CDH1):c.463_464del (p.Asp155fs)
NM_004360.5(CDH1):c.468G>A (p.Trp156Ter) rs876661107
NM_004360.5(CDH1):c.48+1G>A rs1440280370
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs) rs1555515217
NM_004360.5(CDH1):c.49-2A>C
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.504del (p.Gly169fs) rs864622655
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.529C>T (p.Gln177Ter) rs1555515232
NM_004360.5(CDH1):c.531+1G>A rs1131690808
NM_004360.5(CDH1):c.552dup (p.Glu185fs) rs1597890963
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter) rs761753486
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
NM_004360.5(CDH1):c.594_595insT (p.Thr199fs) rs1555515264
NM_004360.5(CDH1):c.602del (p.Pro201fs)
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter) rs786203576
NM_004360.5(CDH1):c.617_623dup (p.Glu208delinsAspTyrTer)
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter) rs1962456814
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.687+1_687+2del rs1555515296
NM_004360.5(CDH1):c.692del (p.Phe231fs)
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) rs121964876
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.720del (p.Asn240fs) rs1131690819
NM_004360.5(CDH1):c.757_832+3del
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter) rs786201058
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.800_810del (p.Phe267fs) rs1960785108
NM_004360.5(CDH1):c.807del (p.Ser270fs)
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.833-1G>A rs1597893910
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
NM_004360.5(CDH1):c.883dup (p.Thr295fs)
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
NM_004360.5(CDH1):c.906C>A (p.Tyr302Ter)
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter) rs1131690820
NM_004360.5(CDH1):c.972dup (p.Val325fs) rs1597894239

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