"3billion"[submitter] AND "RFT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572506	NM_052859.4(RFT1):c.1458+5G>A	RFT1	Single nucleotide variant (intron variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2572513	NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)	RFT1 (R77*)	Single nucleotide variant (nonsense)	RFT1-congenital disorder of glycosylation	GLikely pathogenic