ClinVar Miner

List of variants in gene CDH1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_004360.5(CDH1):c.*54C>T rs1801026 0.17023
NM_004360.5(CDH1):c.531+10G>C rs33963999 0.03907
NM_004360.5(CDH1):c.2253C>T (p.Asn751=) rs33964119 0.03869
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00018
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly) rs730881665 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.2073C>T (p.Ala691=) rs536104508 0.00001
NM_004360.5(CDH1):c.2165-20T>C rs1555517631 0.00001
NM_004360.5(CDH1):c.2542C>T (p.Leu848=) rs1567517746 0.00001
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg) rs750979600 0.00001
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val) rs150795245
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1452C>T (p.Pro484=) rs1597898030
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.2037_2061dup (p.Cys688delinsHisLeuArgGlyGlnArgValTer) rs2152139420
NM_004360.5(CDH1):c.2475G>A (p.Pro825=) rs755658014
NM_004360.5(CDH1):c.2493C>T (p.Leu831=) rs779267700
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.832+1G>A rs878854697

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