ClinVar Miner

List of variants in gene DES reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.736-35C>A rs41272701 0.03434
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001927.4(DES):c.1245-214C>G rs148363532 0.01424
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.1289-287G>A rs111253934 0.01173
NM_001927.4(DES):c.1372-53G>A rs113470975 0.01139
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1288+79G>A rs73991545 0.00987
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.897+13G>A rs201433470 0.00002
NM_001927.4(DES):c.933C>T (p.Asn311=) rs756434148 0.00002
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962 0.00001
NM_001927.4(DES):c.150G>T (p.Thr50=) rs1179760415 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.225G>A (p.Gly75=) rs777582958 0.00001
NM_001927.4(DES):c.54C>T (p.Phe18=) rs1420981881 0.00001
NM_001927.4(DES):c.640-17C>T rs762068048 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1244+123dup rs374091713
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.195C>T (p.Gly65=) rs1256584430
NM_001927.4(DES):c.231C>A (p.Thr77=)
NM_001927.4(DES):c.600G>A (p.Leu200=) rs1575014014
NM_001927.4(DES):c.735+14C>T rs2125167702
NM_001927.4(DES):c.78C>G (p.Leu26=) rs1252527107

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