ClinVar Miner

List of variants in gene DES reported by Epithelial Biology; Institute of Medical Biology, Singapore

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.46C>T (p.Arg16Cys) rs60798368 0.00001
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1099A>T (p.Ile367Phe) rs62636494
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1126C>T (p.His376Tyr) rs57404866
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) rs62636493
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1370A>T (p.Glu457Val) rs267607496
NM_001927.4(DES):c.1379G>T (p.Ser460Ile) rs267607491
NM_001927.4(DES):c.137C>A (p.Ser46Tyr) rs60794845
NM_001927.4(DES):c.137C>T (p.Ser46Phe) rs60794845
NM_001927.4(DES):c.1405G>A (p.Val469Met) rs267607487
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.338_339del (p.Gln113fs) rs267607497
NM_001927.4(DES):c.340_342del (p.Glu114del) rs267607493
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.723dup (p.Val242fs) rs57659464
NM_001927.4(DES):c.735+2_735+11del rs267607489
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494

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