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21 records found for search term Commd5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598233597CV3948817single nucleotide variantNM_014066.4(COMMD5):c.14G>C (p.Gly5Ala)not specified [RCV005319955]uncertain significance8144851325144851325Humanname
155996839CV2398612single nucleotide variantNM_014066.4(COMMD5):c.56G>A (p.Ser19Asn)not specified [RCV004237921]uncertain significance8144851283144851283Humanname
156141198CV2199913single nucleotide variantNM_014066.4(COMMD5):c.194G>A (p.Arg65Gln)not specified [RCV004074093]uncertain significance8144851145144851145Humanname
156232779CV2273788single nucleotide variantNM_014066.4(COMMD5):c.181G>C (p.Gly61Arg)not specified [RCV004132427]uncertain significance8144851158144851158Humanname
401737645CV2699870single nucleotide variantNM_014066.4(COMMD5):c.116T>C (p.Leu39Pro)not specified [RCV004308511]uncertain significance8144851223144851223Humanname
401910955CV2828695single nucleotide variantNM_014066.4(COMMD5):c.113G>A (p.Arg38Gln)not provided [RCV003425588]likely benign8144851226144851226Humanname
405656992CV3305468single nucleotide variantNM_014066.4(COMMD5):c.118C>G (p.Leu40Val)not specified [RCV004437749]uncertain significance8144851221144851221Humanname
598233560CV3948812single nucleotide variantNM_014066.4(COMMD5):c.295C>G (p.Leu99Val)not specified [RCV005319950]uncertain significance8144851044144851044Humanname
156374903CV2194915single nucleotide variantNM_014066.4(COMMD5):c.602G>A (p.Arg201Gln)not specified [RCV004075443]uncertain significance8144850737144850737Humanname
155979581CV2243821single nucleotide variantNM_014066.4(COMMD5):c.659G>A (p.Arg220His)not specified [RCV004114779]uncertain significance8144850680144850680Humanname
156197867CV2362738single nucleotide variantNM_014066.4(COMMD5):c.536A>G (p.Gln179Arg)not specified [RCV004208856]uncertain significance8144850803144850803Humanname
401782002CV2719130single nucleotide variantNM_014066.4(COMMD5):c.352A>C (p.Ile118Leu)not specified [RCV004324798]uncertain significance8144850987144850987Humanname
401870727CV2766298single nucleotide variantNM_014066.4(COMMD5):c.454G>T (p.Val152Phe)not specified [RCV004342554]uncertain significance8144850885144850885Humanname
407452151CV3423293single nucleotide variantNM_014066.4(COMMD5):c.472C>T (p.Arg158Trp)not specified [RCV004608324]uncertain significance8144850867144850867Humanname
597648309CV3654085single nucleotide variantNM_014066.4(COMMD5):c.631A>G (p.Met211Val)not specified [RCV004910231]uncertain significance8144850708144850708Humanname
597648316CV3654086single nucleotide variantNM_014066.4(COMMD5):c.503T>C (p.Leu168Pro)not specified [RCV004910232]uncertain significance8144850836144850836Humanname
598233552CV3948811single nucleotide variantNM_014066.4(COMMD5):c.404G>A (p.Arg135Gln)not specified [RCV005319949]uncertain significance8144850935144850935Humanname
598233568CV3948813single nucleotide variantNM_014066.4(COMMD5):c.628G>A (p.Glu210Lys)not specified [RCV005319951]uncertain significance8144850711144850711Humanname
598233573CV3948814single nucleotide variantNM_014066.4(COMMD5):c.553G>A (p.Gly185Arg)not specified [RCV005319952]uncertain significance8144850786144850786Humanname
598233589CV3948816single nucleotide variantNM_014066.4(COMMD5):c.449C>T (p.Pro150Leu)not specified [RCV005319954]uncertain significance8144850890144850890Humanname
598233604CV3948818single nucleotide variantNM_014066.4(COMMD5):c.416A>G (p.Asp139Gly)not specified [RCV005319956]uncertain significance8144850923144850923Humanname