ClinVar Miner

List of variants in gene RFT1 reported as uncertain significance for Congenital disorder of glycosylation type 1N

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Total variants: 9
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HGVS dbSNP
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)

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