List of variants in gene PMM2 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00368
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	rs80338701	0.00003
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)	rs104894527	0.00001

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