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Pathways
Variants search result for Homo sapiens
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14 records found for search term Denr
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405270334CV3215460single nucleotide variantNM_003677.5(DENR):c.-2A>CDENR-related disorder [RCV003949202]likely benign12122753700122753700Humanname , trait , alternate_id
405273104CV3210307single nucleotide variantNM_003677.5(DENR):c.295+6A>TDENR-related disorder [RCV003914535]likely benign12122765393122765393Humanname , trait , alternate_id
15129049CV787793single nucleotide variantNM_003677.5(DENR):c.107-9C>Tnot provided [RCV000980814]likely benign12122762178122762178Humanname
405286949CV3205485single nucleotide variantNM_003677.5(DENR):c.264G>A (p.Gly88=)DENR-related disorder [RCV003959647]likely benign12122765356122765356Humanname , trait , alternate_id
156259455CV2204736single nucleotide variantNM_003677.5(DENR):c.49C>T (p.Pro17Ser)not specified [RCV004074996]likely benign12122753750122753750Humanname
156373061CV2204751single nucleotide variantNM_003677.5(DENR):c.62C>T (p.Ala21Val)not specified [RCV004075011]uncertain significance12122753763122753763Humanname
155926362CV2345168single nucleotide variantNM_003677.5(DENR):c.76G>T (p.Asp26Tyr)not specified [RCV004195907]uncertain significance12122753777122753777Humanname
329376817CV2455192single nucleotide variantNM_003677.5(DENR):c.95T>C (p.Leu32Pro)not specified [RCV004274424]uncertain significance12122753796122753796Humanname
405256065CV3208575single nucleotide variantNM_003677.5(DENR):c.65A>C (p.Lys22Thr)DENR-related disorder [RCV003939651]likely benign12122753766122753766Humanname , trait , alternate_id
405267246CV3220243single nucleotide variantNM_003677.5(DENR):c.330C>G (p.Thr110=)DENR-related disorder [RCV003969488]likely benign12122767522122767522Humanname , trait , alternate_id
156344627CV2346150single nucleotide variantNM_003677.5(DENR):c.202C>T (p.Leu68Phe)not specified [RCV004201611]uncertain significance12122762920122762920Humanname
401761859CV2699436single nucleotide variantNM_003677.5(DENR):c.267A>C (p.Glu89Asp)not specified [RCV004299661]uncertain significance12122765359122765359Humanname
597657585CV3655361single nucleotide variantNM_003677.5(DENR):c.287A>C (p.Gln96Pro)not specified [RCV004911328]uncertain significance12122765379122765379Humanname
156049969CV2315896single nucleotide variantNM_003677.5(DENR):c.331G>A (p.Val111Ile)not specified [RCV004171671]uncertain significance12122767523122767523Humanname