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27 records found for search term Gemin8
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15141477CV760834single nucleotide variantNM_001042479.2(GEMIN8):c.16-8T>Cnot provided [RCV000921847]benignX1402054214020542Humanname
401931060CV2823908single nucleotide variantNM_001042479.2(GEMIN8):c.57G>A (p.Pro19=)not provided [RCV003441026]likely benignX1402049314020493Humanname
155920657CV2211899single nucleotide variantNM_001042479.2(GEMIN8):c.26C>T (p.Ser9Leu)not specified [RCV004087032]uncertain significanceX1402052414020524Humanname
401931059CV2823907single nucleotide variantNM_001042479.2(GEMIN8):c.192C>T (p.Ser64=)not provided [RCV003441025]likely benignX1402035814020358Humanname
15159698CV717667single nucleotide variantNM_001042479.2(GEMIN8):c.135C>G (p.Ala45=)not provided [RCV000969758]benignX1402041514020415Humanname
401931058CV2823906single nucleotide variantNM_001042479.2(GEMIN8):c.555G>A (p.Ser185=)not provided [RCV003441024]likely benignX1400908714009087Humanname
597758553CV3687879single nucleotide variantNM_001042479.2(GEMIN8):c.85C>G (p.His29Asp)not specified [RCV004925314]uncertain significanceX1402046514020465Humanname
15101962CV729439single nucleotide variantNM_001042479.2(GEMIN8):c.91G>T (p.Ala31Ser)not provided [RCV000892383]benignX1402045914020459Humanname
156373056CV2204747single nucleotide variantNM_001042479.2(GEMIN8):c.230A>G (p.Tyr77Cys)not specified [RCV004075007]uncertain significanceX1402032014020320Humanname
156237915CV2265302single nucleotide variantNM_001042479.2(GEMIN8):c.199G>A (p.Asp67Asn)not specified [RCV004128194]uncertain significanceX1402035114020351Humanname
156273470CV2323676single nucleotide variantNM_001042479.2(GEMIN8):c.136G>A (p.Val46Met)not specified [RCV004165854]likely benignX1402041414020414Humanname
405786459CV3258245single nucleotide variantNM_001042479.2(GEMIN8):c.212C>T (p.Ala71Val)not specified [RCV004387749]uncertain significanceX1402033814020338Humanname
407512791CV3432997single nucleotide variantNM_001042479.2(GEMIN8):c.257A>C (p.Tyr86Ser)not specified [RCV004626915]likely benignX1402029314020293Humanname
598186242CV3970658single nucleotide variantNM_001042479.2(GEMIN8):c.247T>C (p.Trp83Arg)not specified [RCV005353499]uncertain significanceX1402030314020303Humanname
598186251CV3970659single nucleotide variantNM_001042479.2(GEMIN8):c.168A>C (p.Leu56Phe)not specified [RCV005353500]likely benignX1402038214020382Humanname
598186258CV3970660single nucleotide variantNM_001042479.2(GEMIN8):c.269C>G (p.Ser90Cys)not specified [RCV005353501]uncertain significanceX1402028114020281Humanname
156065721CV2225400single nucleotide variantNM_001042479.2(GEMIN8):c.514G>A (p.Val172Met)not specified [RCV004100811]uncertain significanceX1400912814009128Humanname
156265102CV2329502single nucleotide variantNM_001042479.2(GEMIN8):c.520G>A (p.Ala174Thr)not specified [RCV004180637]uncertain significanceX1400912214009122Humanname
156212004CV2366900single nucleotide variantNM_001042479.2(GEMIN8):c.623G>A (p.Ser208Asn)not specified [RCV004213313]uncertain significanceX1400901914009019Humanname
155934269CV2372427single nucleotide variantNM_001042479.2(GEMIN8):c.301C>T (p.Arg101Cys)not specified [RCV004219234]uncertain significanceX1402024914020249Humanname
401725006CV2697242single nucleotide variantNM_001042479.2(GEMIN8):c.652G>A (p.Ala218Thr)not specified [RCV004304010]uncertain significanceX1400899014008990Humanname
401758716CV2700719single nucleotide variantNM_001042479.2(GEMIN8):c.350C>G (p.Ser117Cys)not specified [RCV004313431]uncertain significanceX1402020014020200Humanname
401865492CV2755538single nucleotide variantNM_001042479.2(GEMIN8):c.539G>A (p.Cys180Tyr)not specified [RCV004340119]likely benignX1400910314009103Humanname
401854437CV2774449single nucleotide variantNM_001042479.2(GEMIN8):c.686G>A (p.Arg229Gln)not specified [RCV004347784]uncertain significanceX1400895614008956Humanname
597704040CV3687878single nucleotide variantNM_001042479.2(GEMIN8):c.598G>A (p.Glu200Lys)not specified [RCV004916770]uncertain significanceX1400904414009044Humanname
597758558CV3687880single nucleotide variantNM_001042479.2(GEMIN8):c.608G>T (p.Arg203Leu)not specified [RCV004925315]uncertain significanceX1400903414009034Humanname
598219532CV3970657single nucleotide variantNM_001042479.2(GEMIN8):c.586C>T (p.Arg196Trp)not specified [RCV005340307]uncertain significanceX1400905614009056Humanname