ClinVar Miner

List of variants studied for RFT1-congenital disorder of glycosylation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu) rs142016662 0.00018
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg) rs201876415 0.00003

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