ClinVar Miner

List of variants reported as benign for PGM1-CDG by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_002633.3(PGM1):c.*130C>T rs2749098
NM_002633.3(PGM1):c.*22C>T rs8294
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257
NM_002633.3(PGM1):c.1464+14G>T rs2269238
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301

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