ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+1del rs1064795267
NM_004360.5(CDH1):c.1565+5G>A rs786201861
NM_004360.5(CDH1):c.1566-2A>G rs1555516520
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val) rs863224726
NM_004360.5(CDH1):c.1703C>G (p.Thr568Arg) rs786202712
NM_004360.5(CDH1):c.1711+1G>C rs886041161
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) rs786202290
NM_004360.5(CDH1):c.1936+2T>C
NM_004360.5(CDH1):c.1936+5G>A rs1567512631
NM_004360.5(CDH1):c.2165-2A>G rs1596970624
NM_004360.5(CDH1):c.2196G>C (p.Arg732=)
NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys) rs786202785
NM_004360.5(CDH1):c.2295+1G>A
NM_004360.5(CDH1):c.2295+1G>C rs1596971108
NM_004360.5(CDH1):c.2295G>A (p.Gln765=) rs1961383748
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
NM_004360.5(CDH1):c.2436del (p.Asp812fs)
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter) rs1555518211
NM_004360.5(CDH1):c.2474dup (p.Pro826fs) rs1555518221
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter) rs1596976243
NM_004360.5(CDH1):c.2490dup (p.Leu831fs) rs1131690822
NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter) rs1555518239
NM_004360.5(CDH1):c.48G>C (p.Gln16His) rs749591910
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.687+2T>C rs1555515297
NM_004360.5(CDH1):c.831A>G (p.Pro277=)
NM_004360.5(CDH1):c.833-9C>G rs878854698
NM_004360.5(CDH1):c.944A>G (p.Asn315Ser)

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