ClinVar Miner

List of variants in gene DES reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
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.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.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.54C>T (p.Phe18=) rs1420981881 0.00001
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1289-741G>A rs985650778
NM_001927.4(DES):c.1297C>T (p.Pro433Ser)
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.1372-6C>T
NM_001927.4(DES):c.231C>A (p.Thr77=)
NM_001927.4(DES):c.465C>T (p.Tyr155=) rs1458306248
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.78C>G (p.Leu26=) rs1252527107
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410

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