ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP
NM_004360.5(CDH1):c.1008+2T>C rs1060501237
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.1031_1032dup (p.Val345fs) rs1555515721
NM_004360.5(CDH1):c.1137+1G>A rs876660771
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1137G>T (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter) rs1555509636
NM_004360.5(CDH1):c.1312del (p.Thr438fs) rs1555515920
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.1390del (p.Val464fs) rs1555516111
NM_004360.5(CDH1):c.1458_1459TG[1] (p.Val487fs) rs1567508939
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter) rs778871891
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter) rs876659716
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.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.2029dup (p.Gln677fs) rs1555517100
NM_004360.5(CDH1):c.202del (p.Tyr68fs) rs786202151
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter) rs149127230
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2324del (p.Gly775fs) rs1060501248
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2440-2A>G rs1555518210
NM_004360.5(CDH1):c.261del (p.Arg87fs) rs1555514429
NM_004360.5(CDH1):c.315del (p.Thr106fs) rs1064795703
NM_004360.5(CDH1):c.337A>T (p.Lys113Ter) rs876661106
NM_004360.5(CDH1):c.369_375CCGCCCC[3] (p.His128fs) rs1567501500
NM_004360.5(CDH1):c.436_437TC[1] (p.Pro147fs) rs1555515197
NM_004360.5(CDH1):c.447_453CAGAAGA[3] (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.531+1G>A rs1131690808
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.687+1G>A rs1567504977
NM_004360.5(CDH1):c.687+2T>C rs1555515297
NM_004360.5(CDH1):c.707C>A (p.Ser236Ter) rs730881663
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>A rs878854697

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