ClinVar Miner

List of variants in gene PGM1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*236T>C rs534628770
NM_002633.3(PGM1):c.*348G>A rs58522038
NM_002633.3(PGM1):c.*357A>G rs886046484
NM_002633.3(PGM1):c.*72A>G rs761043925
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1028+11C>A rs541069522
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1144+10A>G rs886046482
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808

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