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Variants search result for Homo sapiens
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15 records found for search term Gtf2h2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15198997CV699152single nucleotide variantNM_001515.4(GTF2H2):c.654G>A (p.Thr218=)not provided [RCV000956917]likely benign57104810971048109Humanname
405718207CV3255500single nucleotide variantNM_001515.4(GTF2H2):c.139T>C (p.Phe47Leu)not specified [RCV004388457]uncertain significance57106130471061304Humanname
156288191CV2301313single nucleotide variantNM_001515.4(GTF2H2):c.800C>T (p.Ala267Val)not specified [RCV004160480]uncertain significance57104546571045465Humanname
156265306CV2312201single nucleotide variantNM_001515.4(GTF2H2):c.440A>C (p.Asn147Thr)not specified [RCV004165098]uncertain significance57105538271055382Humanname
156041254CV2342124single nucleotide variantNM_001515.4(GTF2H2):c.685A>C (p.Lys229Gln)not specified [RCV004191717]uncertain significance57104807871048078Humanname
156230941CV2348722single nucleotide variantNM_001515.4(GTF2H2):c.433C>T (p.Leu145Phe)not specified [RCV004201132]uncertain significance57105538971055389Humanname
401722640CV2703444single nucleotide variantNM_001515.4(GTF2H2):c.572C>T (p.Ala191Val)not specified [RCV004317638]uncertain significance57104883971048839Humanname
405718215CV3255501single nucleotide variantNM_001515.4(GTF2H2):c.403G>A (p.Val135Met)not specified [RCV004388458]uncertain significance57105541971055419Humanname
405718224CV3255502single nucleotide variantNM_001515.4(GTF2H2):c.706G>C (p.Val236Leu)not specified [RCV004388459]uncertain significance57104805771048057Humanname
405718233CV3255503single nucleotide variantNM_001515.4(GTF2H2):c.796G>T (p.Asp266Tyr)not specified [RCV004388460]uncertain significance57104546971045469Humanname
405718241CV3255504single nucleotide variantNM_001515.4(GTF2H2):c.806C>T (p.Pro269Leu)not specified [RCV004388461]uncertain significance57104545971045459Humanname
407464360CV3433524single nucleotide variantNM_001515.4(GTF2H2):c.617G>A (p.Arg206His)not specified [RCV004635061]uncertain significance57104879471048794Humanname
407504462CV3433525single nucleotide variantNM_001515.4(GTF2H2):c.589T>A (p.Ser197Thr)not specified [RCV004624081]uncertain significance57104882271048822Humanname
407464364CV3433526single nucleotide variantNM_001515.4(GTF2H2):c.386C>A (p.Thr129Lys)not specified [RCV004635062]uncertain significance57105543671055436Humanname
597771581CV3688778single nucleotide variantNM_001515.4(GTF2H2):c.415T>A (p.Cys139Ser)not specified [RCV004928532]uncertain significance57105540771055407Humanname