ClinVar Miner

List of variants in gene CDH1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NC_000016.10:g.68602418_68796011del
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) rs267606712
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1320+1G>C rs886039685
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn) rs1555515925
NM_004360.5(CDH1):c.1590dup (p.Asn531fs) rs1555516535
NM_004360.5(CDH1):c.1711+1dup rs2152137028
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val) rs121964878
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu) rs1555517099
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter) rs121964874
NM_004360.5(CDH1):c.2386dup (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.2440-396_*224delinsGGA rs2152143625
NM_004360.5(CDH1):c.49-2A>G rs1060501226
NM_004360.5(CDH1):c.521dup (p.Asn174fs) rs587781290
NM_004360.5(CDH1):c.531+2T>A rs1597890755
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter) rs121964875
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter) rs121964876
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr) rs1555515445
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter) rs121964873

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