ClinVar Miner

List of variants reported as pathogenic by ClinGen CDH1 Variant Curation Expert Panel

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ClinVar version:
Total variants: 123
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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.1009_1010del (p.Ser337Phefs) rs786201045
NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter) rs587776398
NM_004360.5(CDH1):c.1031_1032dup (p.Val345fs) rs1555515721
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter) rs1555515726
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer) 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.1137+1del rs876659446
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1170del (p.Asn390fs) rs1567507724
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter) rs1962423346
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.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1312del (p.Thr438fs) rs1555515920
NM_004360.5(CDH1):c.1341del (p.Lys447fs) rs1555516089
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1390del (p.Val464fs) rs1555516111
NM_004360.5(CDH1):c.1408del (p.Thr470fs) rs1131690821
NM_004360.5(CDH1):c.1443del (p.Asn481fs) rs1555516137
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.1505del (p.Gly502fs) rs869312765
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter) rs1131690810
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+2dup rs1555516200
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter) rs876659716
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter) rs886039590
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1612del (p.Asp538fs) rs1555516545
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.1733dup (p.Gly579fs) rs1555516821
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.187C>T (p.Arg63Ter) rs587783047
NM_004360.5(CDH1):c.1895_1896del (p.His632fs) rs1060501224
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter) rs1567512585
NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs) rs1555516896
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) rs587782750
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs) rs1555517074
NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs) rs1555517074
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer) rs730881653
NM_004360.5(CDH1):c.1993del (p.Ile665fs) rs1567513227
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.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.2076_2077del (p.Gly693fs) rs876661133
NM_004360.5(CDH1):c.208dup (p.Ser70fs) rs1555514406
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter) rs149127230
NM_004360.5(CDH1):c.2144del (p.Gly715fs) rs1555517153
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter) rs876658944
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter) rs786202785
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.2311C>T (p.Gln771Ter) rs1131690813
NM_004360.5(CDH1):c.2324del (p.Gly775fs) rs1060501248
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.2430del (p.Phe810fs) rs786203752
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.261del (p.Arg87fs) rs1555514429
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter) rs1555509646
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter) rs781409616
NM_004360.5(CDH1):c.2T>A (p.Met1Lys) rs1555509623
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.308G>A (p.Trp103Ter) rs1555514464
NM_004360.5(CDH1):c.315del (p.Thr106fs) rs1064795703
NM_004360.5(CDH1):c.337A>T (p.Lys113Ter) rs876661106
NM_004360.5(CDH1):c.360dup (p.His121fs) rs878854690
NM_004360.5(CDH1):c.376_382dup (p.His128fs) rs1567501500
NM_004360.5(CDH1):c.377del (p.Pro126fs) 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.438_439del (p.Pro147fs) rs1555515197
NM_004360.5(CDH1):c.454_460del (p.Gln152fs) rs1131690815
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs) rs1131690815
NM_004360.5(CDH1):c.455_465del (p.Gln152fs) rs1555515210
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter) rs1567504575
NM_004360.5(CDH1):c.457_460del (p.Lys153fs) rs1555515214
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter) rs1555515215
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.489C>A (p.Cys163Ter) rs1064794230
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.594_595insT (p.Thr199fs) rs1555515264
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) rs121964875
NM_004360.5(CDH1):c.603del (p.Val202fs) rs1131690809
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter) rs786203576
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.696_697del (p.His233fs) rs1060501214
NM_004360.5(CDH1):c.707C>A (p.Ser236Ter) rs730881663
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.76G>T (p.Glu26Ter) rs786201058
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter) rs876659503
NM_004360.5(CDH1):c.832+1G>T rs878854697
NM_004360.5(CDH1):c.833-2A>G rs1555515596
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter) rs1131690820

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