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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)	rs118203913	0.00004
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.1222A>G (p.Met408Val)	rs796053522
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser)	rs1575494302
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys)	rs772820136
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg)	rs772820136
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys)	rs796053521

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