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Variants search result for Homo sapiens
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20 records found for search term Enc1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150485035CV1280627single nucleotide variantNM_003633.4(ENC1):c.-5A>Gnot provided [RCV001715506]benign57463649074636490Humanname
155970736CV2262272single nucleotide variantNM_003633.4(ENC1):c.46G>A (p.Gly16Ser)not specified [RCV004128477]uncertain significance57463644074636440Humanname
597747226CV3667938single nucleotide variantNM_003633.4(ENC1):c.40A>G (p.Ser14Gly)not specified [RCV004922884]uncertain significance57463644674636446Humanname
156112919CV2353475single nucleotide variantNM_003633.4(ENC1):c.112C>A (p.Leu38Ile)not specified [RCV004205929]uncertain significance57463637474636374Humanname
401774101CV2702569single nucleotide variantNM_003633.4(ENC1):c.272A>G (p.Asn91Ser)not specified [RCV004317054]uncertain significance57463621474636214Humanname
407507173CV3435034single nucleotide variantNM_003633.4(ENC1):c.206G>A (p.Arg69His)not specified [RCV004625009]uncertain significance57463628074636280Humanname
156024653CV2273890single nucleotide variantNM_003633.4(ENC1):c.979C>G (p.Pro327Ala)not specified [RCV004132512]uncertain significance57463550774635507Humanname
155943993CV2294950single nucleotide variantNM_003633.4(ENC1):c.782A>G (p.Lys261Arg)not specified [RCV004156098]uncertain significance57463570474635704Humanname
155992147CV2384476single nucleotide variantNM_003633.4(ENC1):c.539G>C (p.Arg180Thr)not specified [RCV004229889]uncertain significance57463594774635947Humanname
329402306CV2454124single nucleotide variantNM_003633.4(ENC1):c.734A>G (p.Tyr245Cys)not specified [RCV004265621]uncertain significance57463575274635752Humanname
401776603CV2711211single nucleotide variantNM_003633.4(ENC1):c.866G>A (p.Arg289Gln)not specified [RCV004313004]uncertain significance57463562074635620Humanname
405256189CV3208688single nucleotide variantNM_003633.4(ENC1):c.417C>G (p.Phe139Leu)ENC1-related disorder [RCV003939747]uncertain significance57463606974636069Humanname , trait , alternate_id
405756571CV3245090single nucleotide variantNM_003633.4(ENC1):c.464T>A (p.Leu155Gln)not specified [RCV004382722]uncertain significance57463602274636022Humanname
597686067CV3667937single nucleotide variantNM_003633.4(ENC1):c.535A>T (p.Ile179Phe)not specified [RCV004914825]uncertain significance57463595174635951Humanname
597747236CV3667941single nucleotide variantNM_003633.4(ENC1):c.550G>A (p.Asp184Asn)not specified [RCV004922886]uncertain significance57463593674635936Humanname
597747240CV3667942single nucleotide variantNM_003633.4(ENC1):c.674G>A (p.Arg225His)not specified [RCV004922887]uncertain significance57463581274635812Humanname
8631694CV86898single nucleotide variantNM_003633.3(ENC1):c.305T>C (p.Leu102Pro)Malignant melanoma [RCV000066989]not provided57463618174636181Humanname
156082379CV2384849single nucleotide variantNM_003633.4(ENC1):c.1748C>T (p.Thr583Ile)not specified [RCV004225730]uncertain significance57463473874634738Humanname
407507177CV3435035single nucleotide variantNM_003633.4(ENC1):c.1762C>T (p.Pro588Ser)not specified [RCV004625010]uncertain significance57463472474634724Humanname
407507179CV3435036single nucleotide variantNM_003633.4(ENC1):c.1322G>A (p.Ser441Asn)not specified [RCV004625011]uncertain significance57463516474635164Humanname