ClinVar Miner

List of variants in gene DES reported as benign

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001927.4(DES):c.579-38C>T rs12991025 0.50005
NM_001927.3(DES):c.*762T>C rs11685408 0.49560
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_001927.4(DES):c.1244+264G>A rs2854895 0.35067
NM_001927.4(DES):c.93= (p.Ser31=) rs2017800 0.11799
NM_001927.4(DES):c.75= (p.Pro25=) rs1318299 0.10153
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.1289-264C>T rs58898098 0.03186
NM_001927.4(DES):c.1244+192C>T rs145871254 0.02924
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.*468G>T rs73085265 0.02797
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1245-306G>T rs144177848 0.02423
NM_001927.4(DES):c.1245-201A>G rs149725578 0.02303
NM_001927.4(DES):c.1245-245T>C rs146094800 0.02291
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.*662G>A rs116635264 0.01332
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.735+20C>T rs151226355 0.00694
NM_001927.4(DES):c.*308C>A rs140222667 0.00235
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.*475T>G rs138913201 0.00131
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.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.640-16G>A rs181712657 0.00028
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.897+16C>T rs370385097 0.00011
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001927.4(DES):c.*112C>G rs540351476 0.00004
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.225G>A (p.Gly75=) rs777582958 0.00001
NM_001927.4(DES):c.640-17C>T rs762068048 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.912C>T (p.Thr304=) rs778826152 0.00001
NM_001927.4(DES):c.*40del rs1954530107
NM_001927.4(DES):c.1024-11dup rs1954436789
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1244+123del rs374091713
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.423C>T (p.Asn141=) rs1954375978
NM_001927.4(DES):c.578+64T>G rs907677
NM_001927.4(DES):c.579-100G>C rs2666106
NM_001927.4(DES):c.735+14C>T rs2125167702
NM_001927.4(DES):c.897+4_897+5del rs397516699

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