ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1N

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Total variants: 17
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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.1222A>G (p.Met408Val) rs796053522
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109
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.199C>T (p.Arg67Cys) rs118203913
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser)
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)
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
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149

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