ClinVar Miner

List of variants in gene DES reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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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.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.578+11G>A rs111548596 0.06130
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.372G>A (p.Glu124=) rs34365369 0.01950
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.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.935A>C (p.Asp312Ala) rs148947510 0.00093
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.736-8C>A rs140375681 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
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.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001927.4(DES):c.-7C>G rs764966574 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.237G>A (p.Thr79=) rs727503899 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001927.4(DES):c.91A>T (p.Ser31Cys) rs1553603207 0.00001
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
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.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1167G>T (p.Gln389His) rs794727789
NM_001927.4(DES):c.1175T>C (p.Leu392Pro) rs62636493
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1271C>T (p.Ser424Phe) rs886042791
NM_001927.4(DES):c.1275C>T (p.Ala425=) rs1553603739
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
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.1353C>T (p.Ile451=) 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.1372-3dup rs876657769
NM_001927.4(DES):c.1372-8C>T rs794727968
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.20C>T (p.Ser7Phe) rs903985237
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.25C>G (p.Gln9Glu) rs886044488
NM_001927.4(DES):c.30C>A (p.Arg10=) rs886042179
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.476T>C (p.Leu159Pro) rs1559352425
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.567G>C (p.Arg189=) rs886044489
NM_001927.4(DES):c.579-5C>T rs886042889
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.743G>A (p.Arg248His) rs375906682
NM_001927.4(DES):c.768A>G (p.Glu256=) rs886044420
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.97C>T (p.Pro33Ser) rs886042942

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