List of variants in gene DES reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
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.166G>C (p.Val56Leu)	rs578066781	0.00021
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.893C>T (p.Ser298Leu)	rs62636491	0.00014
NM_001927.4(DES):c.407T>A (p.Leu136His)	rs397516695	0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His)	rs367961979	0.00011
NM_001927.4(DES):c.250G>A (p.Gly84Ser)	rs200545412	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.299A>C (p.Glu100Ala)	rs762738069	0.00006
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)	rs59962885	0.00005
NM_001927.4(DES):c.1371+1G>A	rs748323823	0.00005
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.937G>A (p.Ala313Thr)	rs766252091	0.00004
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)	rs61368398	0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala)	rs769034192	0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys)	rs771499260	0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr)	rs918962036	0.00003
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	rs62636492	0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser)	rs142712150	0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)	rs121913005	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.295C>G (p.Gln99Glu)	rs794728992	0.00002
NM_001927.4(DES):c.566G>A (p.Arg189Gln)	rs1025323214	0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp)	rs369495436	0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His)	rs141486420	0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg)	rs1410266369	0.00002
NM_001927.4(DES):c.1023+6T>G	rs1039179103	0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)	rs763903197	0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile)	rs375005961	0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val)	rs141592925	0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met)	rs776786349	0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)	rs1057520275	0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)	rs1427557970	0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)	rs267607498	0.00001
NM_001927.4(DES):c.146T>C (p.Val49Ala)	rs794728989	0.00001
NM_001927.4(DES):c.300G>A (p.Glu100=)	rs1339030541	0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu)	rs373081285	0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln)	rs763769862	0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr)	rs769647148	0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr)	rs1457398926	0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser)	rs727504877	0.00001
NM_001927.4(DES):c.91A>T (p.Ser31Cys)	rs1553603207	0.00001
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)	rs1559353118
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)	rs121913000
NM_001927.4(DES):c.1099A>G (p.Ile367Val)	rs62636494
NM_001927.4(DES):c.109C>G (p.Arg37Gly)	rs537881554
NM_001927.4(DES):c.1158_1160del (p.Glu387del)	rs1559353314
NM_001927.4(DES):c.119T>C (p.Phe40Ser)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)	rs751942358
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)	rs200580581
NM_001927.4(DES):c.1322A>T (p.His441Leu)	rs1064796937
NM_001927.4(DES):c.1324A>G (p.Thr442Ala)	rs794728995
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)	rs1064796352
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.1364A>T (p.Asp455Val)	rs2125172066
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)	rs1060503170
NM_001927.4(DES):c.141C>A (p.Ser47Arg)	rs749028181
NM_001927.4(DES):c.154C>A (p.Arg52Ser)	rs794728990
NM_001927.4(DES):c.262_263inv (p.Leu88Arg)
NM_001927.4(DES):c.313C>G (p.Arg105Gly)
NM_001927.4(DES):c.322G>A (p.Glu108Lys)	rs62636490
NM_001927.4(DES):c.327G>T (p.Lys109Asn)	rs2125166233
NM_001927.4(DES):c.348T>A (p.Asn116Lys)	rs766333303
NM_001927.4(DES):c.352C>T (p.Arg118Cys)	rs1188232371
NM_001927.4(DES):c.368T>A (p.Ile123Asn)	rs1954373441
NM_001927.4(DES):c.404C>T (p.Ala135Val)	rs546741834
NM_001927.4(DES):c.473A>T (p.Glu158Val)	rs1085307571
NM_001927.4(DES):c.479G>A (p.Arg160Gln)	rs1173534531
NM_001927.4(DES):c.494A>G (p.Gln165Arg)	rs1369044757
NM_001927.4(DES):c.529G>A (p.Asp177Asn)	rs1057524813
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.558C>G (p.Asp186Glu)	rs1575013561
NM_001927.4(DES):c.55G>C (p.Gly19Arg)	rs936853024
NM_001927.4(DES):c.571A>G (p.Lys191Glu)	rs1483093429
NM_001927.4(DES):c.623T>C (p.Leu208Ser)	rs373062962
NM_001927.4(DES):c.625G>C (p.Ala209Pro)	rs1553603386
NM_001927.4(DES):c.664C>G (p.Arg222Gly)	rs374687448
NM_001927.4(DES):c.709G>A (p.Ala237Thr)	rs397516697
NM_001927.4(DES):c.725T>A (p.Val242Glu)	rs794728984
NM_001927.4(DES):c.742C>T (p.Arg248Cys)	rs772117708
NM_001927.4(DES):c.77T>A (p.Leu26His)	rs1064796529
NM_001927.4(DES):c.832C>T (p.Arg278Trp)	rs794728985
NM_001927.4(DES):c.833G>C (p.Arg278Pro)	rs761475402
NM_001927.4(DES):c.93T>G (p.Ser31Arg)	rs2017800
NM_001927.4(DES):c.976C>T (p.His326Tyr)	rs794728987
NM_001927.4(DES):c.986A>C (p.Gln329Pro)	rs1060503168
NM_001927.4(DES):c.991T>A (p.Tyr331Asn)	rs1064795298

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