ClinVar Miner

List of variants in gene DES reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 41
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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.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
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.170C>T (p.Ser57Leu) rs372825868 0.00077
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.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.897+16C>T rs370385097 0.00011
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
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.-9G>A rs1359188472 0.00001
NM_001927.4(DES):c.1024-9C>T rs201552590 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 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.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.499G>C (p.Glu167Gln)
NM_001927.4(DES):c.582G>A (p.Leu194=) rs397516696
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891

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