ClinVar Miner

List of variants in gene PGM1 reported as benign 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: 9
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HGVS dbSNP
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257
NM_002633.3(PGM1):c.1280+7C>T rs72922610
NM_002633.3(PGM1):c.1464+14G>T rs2269238
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.1599+9C>T rs115864084
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842

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