ClinVar Miner

List of variants in gene CDH1 reported as uncertain significance by ClinGen CDH1 Variant Curation Expert Panel

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.61C>G (p.Leu21Val) rs863224729 0.00003
NM_004360.5(CDH1):c.1566-1G>C rs113583899 0.00001
NM_004360.5(CDH1):c.2164+2T>C rs876661120 0.00001
NM_004360.5(CDH1):c.225C>G (p.Phe75Leu) rs767019668 0.00001
NM_004360.5(CDH1):c.2281G>A (p.Gly761Arg) rs779648243 0.00001
NM_004360.5(CDH1):c.363C>A (p.His121Gln) rs781427897 0.00001
NM_004360.5(CDH1):c.387+1G>A rs587781919 0.00001
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser) rs878854696 0.00001
NM_004360.5(CDH1):c.105G>C (p.Glu35Asp) rs876660131
NM_004360.5(CDH1):c.112A>C (p.Thr38Pro) rs786203442
NM_004360.5(CDH1):c.121G>T (p.Val41Leu) rs786202465
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr) rs876659762
NM_004360.5(CDH1):c.145G>C (p.Gly49Arg) rs1060501223
NM_004360.5(CDH1):c.1566-2A>G rs1555516520
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala) rs776890776
NM_004360.5(CDH1):c.1613A>T (p.Asp538Val) rs863224726
NM_004360.5(CDH1):c.1711+5G>A rs1131690818
NM_004360.5(CDH1):c.1712-2A>C rs552325719
NM_004360.5(CDH1):c.2161C>G (p.Leu721Val) rs1567513504
NM_004360.5(CDH1):c.2164+2dup rs1555517160
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg) rs587781335
NM_004360.5(CDH1):c.2505_2506dup (p.Glu836fs) rs1555518236
NM_004360.5(CDH1):c.2526del (p.Ala843fs) rs1961538047
NM_004360.5(CDH1):c.2547_2548insA (p.Ser850fs) rs876661286
NM_004360.5(CDH1):c.2549_2550del (p.Ser850fs) rs587782135
NM_004360.5(CDH1):c.2594G>A (p.Trp865Ter) rs1555518270
NM_004360.5(CDH1):c.49-3C>A rs587782366
NM_004360.5(CDH1):c.512T>G (p.Phe171Cys) rs772622109
NM_004360.5(CDH1):c.522C>A (p.Asn174Lys) rs571581856
NM_004360.5(CDH1):c.535A>G (p.Lys179Glu) rs1555515244
NM_004360.5(CDH1):c.5G>T (p.Gly2Val) rs878854692
NM_004360.5(CDH1):c.604G>C (p.Val202Leu) rs546716073
NM_004360.5(CDH1):c.614T>C (p.Phe205Ser) rs1567504835
NM_004360.5(CDH1):c.61C>A (p.Leu21Ile) rs863224729
NM_004360.5(CDH1):c.635G>T (p.Gly212Val) rs1555515276
NM_004360.5(CDH1):c.760G>C (p.Asp254His) rs1555515445
NM_004360.5(CDH1):c.76G>C (p.Glu26Gln) rs786201058
NM_004360.5(CDH1):c.7C>T (p.Pro3Ser) rs1064793079

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