ClinVar Miner

List of variants studied for PGM1-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
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.1280+7C>T rs72922610
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
NM_002633.3(PGM1):c.18A>G (p.Thr6=) rs111246749
NM_002633.3(PGM1):c.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.