List of variants in gene PMM2 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)	rs144040842	0.00039
NM_000303.3(PMM2):c.713G>A (p.Arg238His)	rs151319324	0.00035
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)	rs201556985	0.00019
NM_000303.3(PMM2):c.441C>T (p.Leu147=)	rs146990448	0.00010
NM_000303.3(PMM2):c.339G>A (p.Pro113=)	rs149849259	0.00006
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	rs749720760	0.00005
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)	rs751986971	0.00003
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)	rs184769421	0.00001
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys)	rs886044305	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser)	rs765433263
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)	rs886043289
NM_000303.3(PMM2):c.399A>G (p.Gly133=)	rs886043741
NM_000303.3(PMM2):c.441C>G (p.Leu147=)	rs146990448
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	rs758340382
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser)	rs398123311
NM_000303.3(PMM2):c.693G>A (p.Val231=)	rs761946981

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