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

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)	rs34258285	0.02088
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000303.3(PMM2):c.640-13C>T	rs372181885	0.00073
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	rs80338701	0.00003
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)	rs80338704	0.00001
NM_000303.3(PMM2):c.447+19T>C	rs11074924
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)	rs758340382
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708

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