ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type Ir

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Total variants: 11
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HGVS dbSNP
NC_000001.10:g.(?_20978852)_(20987914_?)del
NM_005216.4(DDOST):c.1265_1286del (p.Ile422fs) rs587776874
NM_005216.4(DDOST):c.1325T>A (p.Phe442Tyr)
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.4(DDOST):c.219G>A (p.Glu73=) rs747449468
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)
NM_005216.4(DDOST):c.647C>T (p.Thr216Met)
NM_005216.4(DDOST):c.650G>A (p.Gly217Asp) rs387906831
NM_005216.4(DDOST):c.696G>C (p.Gln232His) rs867045420
NM_005216.4(DDOST):c.827C>T (p.Ala276Val) rs138061134

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