ClinVar Miner

List of variants in gene DES reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 71
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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.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.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.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.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.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.243C>T (p.Ser81=) rs201594392 0.00015
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.642C>T (p.Asp214=) rs370239228 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.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1226T>C (p.Leu409Pro) rs397516687
NM_001927.4(DES):c.1260C>T (p.Ile420=) rs397516688
NM_001927.4(DES):c.127A>G (p.Lys43Glu) rs397516689
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
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.582G>A (p.Leu194=) rs397516696
NM_001927.4(DES):c.639+13_639+15del rs876657448
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+1G>C rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.980A>C (p.Gln327Pro) rs397516700

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