ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1t by Invitae

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Total variants: 12
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HGVS dbSNP
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808

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