ClinVar Miner

List of variants reported as likely benign for PGM1-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_002633.3(PGM1):c.*198C>T rs10909
NM_002633.3(PGM1):c.*37G>A rs61765314
NM_002633.3(PGM1):c.*406T>C
NM_002633.3(PGM1):c.*93A>C rs4643
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1280+7C>T rs72922610
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.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
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.661C>T (p.Arg221Cys) rs1126728
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501

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