ClinVar Miner

List of variants reported as benign for PGM1-congenital disorder of glycosylation by Illumina Laboratory Services, 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 gnomAD frequency
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_002633.3(PGM1):c.*130C>T rs2749098 0.01573
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_002633.3(PGM1):c.987C>T (p.Arg329=) rs79097301 0.00038

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