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52 records found for search term Polr3c
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401923586CV2803195single nucleotide variantNM_006468.8(POLR3C):c.876+3G>APOLR3C-related disorder [RCV003404417]uncertain significance1145833585145833585Humanname , trait , alternate_id
404982536CV2849123single nucleotide variantNM_006468.8(POLR3C):c.1070+97G>Tnot specified [RCV003488995]benign1145837693145837693Humanname
156270127CV2326435single nucleotide variantNM_006468.8(POLR3C):c.71T>C (p.Ile24Thr)not specified [RCV004183004]uncertain significance1145825847145825847Humanname
329370096CV2435473single nucleotide variantNM_006468.8(POLR3C):c.92C>T (p.Thr31Ile)not specified [RCV004253119]uncertain significance1145825868145825868Humanname
401887926CV2781764single nucleotide variantNM_006468.8(POLR3C):c.958C>T (p.Leu320=)not specified [RCV004356729]likely benign1145836815145836815Humanname
156034367CV2246458single nucleotide variantNM_006468.8(POLR3C):c.191G>C (p.Ser64Thr)not specified [RCV004110223]uncertain significance1145826497145826497Humanname
156277908CV2328364single nucleotide variantNM_006468.8(POLR3C):c.190A>T (p.Ser64Cys)not specified [RCV004175479]uncertain significance1145826496145826496Humanname
401723009CV2703579single nucleotide variantNM_006468.8(POLR3C):c.268C>T (p.Arg90Trp)not specified [RCV004317746]uncertain significance1145826574145826574Humanname
401718109CV2728437single nucleotide variantNM_006468.8(POLR3C):c.233A>G (p.Gln78Arg)not specified [RCV004333425]uncertain significance1145826539145826539Humanname
405667375CV3373599single nucleotide variantNM_006468.8(POLR3C):c.209G>A (p.Arg70His)not specified [RCV004514438]uncertain significance1145826515145826515Humanname
408366045CV3514321deletionNM_006468.8(POLR3C):c.518del (p.Pro173fs)POLR3C-related disorder [RCV004755534]uncertain significance1145826933145826933Humanname , trait , alternate_id
597777776CV3584028single nucleotide variantNM_006468.8(POLR3C):c.199G>C (p.Val67Leu)not specified [RCV004852855]uncertain significance1145826505145826505Humanname
38467427CV920622single nucleotide variantNM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)Decreased total neutrophil count [RCV002227509]|not provided [RCV001200361]likely benign1145826557145826557Human3name
156297020CV2240809single nucleotide variantNM_006468.8(POLR3C):c.533C>G (p.Pro178Arg)not specified [RCV004102106]uncertain significance1145826949145826949Humanname
156009000CV2294294single nucleotide variantNM_006468.8(POLR3C):c.779A>G (p.Asp260Gly)not specified [RCV004151425]uncertain significance1145833360145833360Humanname
156066273CV2376163single nucleotide variantNM_006468.8(POLR3C):c.476G>A (p.Arg159His)not specified [RCV004220392]uncertain significance1145826892145826892Humanname
401743788CV2696866single nucleotide variantNM_006468.8(POLR3C):c.854C>T (p.Thr285Ile)not specified [RCV004290830]uncertain significance1145833560145833560Humanname
401796151CV2740367single nucleotide variantNM_006468.8(POLR3C):c.298A>G (p.Ser100Gly)not specified [RCV003321044]uncertain significance1145826604145826604Humanname
401882808CV2788601single nucleotide variantNM_006468.8(POLR3C):c.644C>G (p.Ala215Gly)not specified [RCV004361095]uncertain significance1145828803145828803Humanname
401902599CV2799389single nucleotide variantNM_006468.8(POLR3C):c.754G>C (p.Val252Leu)POLR3C-related disorder [RCV003418944]uncertain significance1145833335145833335Humanname , trait , alternate_id
405294356CV3214845single nucleotide variantNM_006468.8(POLR3C):c.575A>C (p.Lys192Thr)POLR3C-related disorder [RCV003934256]likely benign1145826991145826991Humanname , trait , alternate_id
405267573CV3219344single nucleotide variantNM_006468.8(POLR3C):c.551A>G (p.Glu184Gly)POLR3C-related disorder [RCV003969597]likely benign1145826967145826967Humanname , trait , alternate_id
405667385CV3373601single nucleotide variantNM_006468.8(POLR3C):c.562T>C (p.Tyr188His)not specified [RCV004514440]uncertain significance1145826978145826978Humanname
405667389CV3373602single nucleotide variantNM_006468.8(POLR3C):c.577C>T (p.Leu193Phe)not specified [RCV004514441]uncertain significance1145826993145826993Humanname
405667394CV3373603single nucleotide variantNM_006468.8(POLR3C):c.812T>G (p.Leu271Arg)not specified [RCV004514442]uncertain significance1145833518145833518Humanname
407525121CV3461008single nucleotide variantNM_006468.8(POLR3C):c.998T>C (p.Met333Thr)not specified [RCV004653942]uncertain significance1145836855145836855Humanname
408383205CV3504802single nucleotide variantNM_006468.8(POLR3C):c.429A>C (p.Glu143Asp)POLR3C-related disorder [RCV004730436]likely benign1145826845145826845Humanname , trait , alternate_id
408365879CV3511955deletionNM_006468.8(POLR3C):c.1533del (p.Ser512fs)POLR3C-related disorder [RCV004755385]uncertain significance1145842347145842347Humanname , trait , alternate_id
408365981CV3513392single nucleotide variantNM_006468.8(POLR3C):c.752T>C (p.Ile251Thr)POLR3C-related disorder [RCV004755478]uncertain significance1145833333145833333Humanname , trait , alternate_id
597777780CV3584029single nucleotide variantNM_006468.8(POLR3C):c.793G>A (p.Glu265Lys)not specified [RCV004852856]uncertain significance1145833499145833499Humanname
597777783CV3584030single nucleotide variantNM_006468.8(POLR3C):c.475C>T (p.Arg159Cys)not specified [RCV004852857]uncertain significance1145826891145826891Humanname
597777879CV3584031single nucleotide variantNM_006468.8(POLR3C):c.415A>G (p.Met139Val)not specified [RCV004852858]uncertain significance1145826831145826831Humanname
597777886CV3584033single nucleotide variantNM_006468.8(POLR3C):c.898G>C (p.Gly300Arg)not specified [RCV004852860]uncertain significance1145836515145836515Humanname
597777901CV3584037single nucleotide variantNM_006468.8(POLR3C):c.757A>G (p.Ser253Gly)not specified [RCV004852864]uncertain significance1145833338145833338Humanname
597777909CV3584039single nucleotide variantNM_006468.8(POLR3C):c.797T>C (p.Ile266Thr)not specified [RCV004852866]uncertain significance1145833503145833503Humanname
156264885CV2388997single nucleotide variantNM_006468.8(POLR3C):c.1298G>A (p.Arg433Gln)not specified [RCV004241992]uncertain significance1145839966145839966Humanname
401734970CV2688669single nucleotide variantNM_006468.8(POLR3C):c.1182G>T (p.Met394Ile)not specified [RCV004301610]uncertain significance1145838167145838167Humanname
401777237CV2721655single nucleotide variantNM_006468.8(POLR3C):c.1474A>T (p.Thr492Ser)not specified [RCV004316148]uncertain significance1145841022145841022Humanname
401937705CV2796846single nucleotide variantNM_006468.8(POLR3C):c.1496T>A (p.Leu499Gln)POLR3C-related disorder [RCV003416798]uncertain significance1145841044145841044Humanname , trait , alternate_id
405272155CV3199237single nucleotide variantNM_006468.8(POLR3C):c.1100G>A (p.Arg367His)POLR3C-related disorder [RCV003914188]likely benign1145838085145838085Humanname , trait , alternate_id
405667364CV3373597single nucleotide variantNM_006468.8(POLR3C):c.1073T>C (p.Phe358Ser)not specified [RCV004514436]uncertain significance1145838058145838058Humanname
405667370CV3373598single nucleotide variantNM_006468.8(POLR3C):c.1181T>C (p.Met394Thr)not specified [RCV004514437]uncertain significance1145838166145838166Humanname
407481767CV3461004single nucleotide variantNM_006468.8(POLR3C):c.1097T>G (p.Phe366Cys)not specified [RCV004664673]uncertain significance1145838082145838082Humanname
407525117CV3461006single nucleotide variantNM_006468.8(POLR3C):c.1379T>C (p.Leu460Pro)not specified [RCV004653940]uncertain significance1145840927145840927Humanname
407525119CV3461007single nucleotide variantNM_006468.8(POLR3C):c.1097T>C (p.Phe366Ser)not specified [RCV004653941]uncertain significance1145838082145838082Humanname
407481773CV3461009single nucleotide variantNM_006468.8(POLR3C):c.1093A>C (p.Ile365Leu)not specified [RCV004664674]uncertain significance1145838078145838078Humanname
597777882CV3584032single nucleotide variantNM_006468.8(POLR3C):c.1592T>C (p.Met531Thr)not specified [RCV004852859]uncertain significance1145842407145842407Humanname
597777890CV3584034single nucleotide variantNM_006468.8(POLR3C):c.1426G>T (p.Ala476Ser)not specified [RCV004852861]uncertain significance1145840974145840974Humanname
597777898CV3584036single nucleotide variantNM_006468.8(POLR3C):c.1064A>T (p.Gln355Leu)not specified [RCV004852863]uncertain significance1145837590145837590Humanname
597777905CV3584038single nucleotide variantNM_006468.8(POLR3C):c.1585T>C (p.Cys529Arg)not specified [RCV004852865]uncertain significance1145842400145842400Humanname
597777913CV3584040single nucleotide variantNM_006468.8(POLR3C):c.1085G>A (p.Cys362Tyr)not specified [RCV004852867]uncertain significance1145838070145838070Humanname
598246379CV3900775single nucleotide variantNM_006468.8(POLR3C):c.1538A>C (p.Glu513Ala)not specified [RCV005258483]uncertain significance1145842353145842353Humanname