List of variants in gene RFT1 reported as likely pathogenic for RFT1-congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)	rs749968109	0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)	rs763862849	0.00002
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.1208+1G>T
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)
NM_052859.4(RFT1):c.740dup (p.Lys248fs)	rs1701662808
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)	rs913477149

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