ClinVar Miner

List of variants reported as likely benign for congenital disorder of glycosylation type I by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_002633.3(PGM1):c.*130C>T rs2749098
NM_002633.3(PGM1):c.*198C>T rs10909
NM_002633.3(PGM1):c.*22C>T rs8294
NM_002633.3(PGM1):c.*37G>A rs61765314
NM_002633.3(PGM1):c.*93A>C rs4643
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.1599+9C>T rs115864084
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728

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