ClinVar Miner

List of variants in gene DES reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 35
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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.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.792C>T (p.Asp264=) rs150370918 0.00168
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.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
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.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667

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