List of variants in gene PMM2 reported as likely pathogenic for not provided

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)	rs150719105	0.00006
NM_000303.3(PMM2):c.347+5G>A	rs1373876757	0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)	rs749720760	0.00005
NM_000303.3(PMM2):c.640-15479C>T	rs1258107584	0.00004
NM_000303.3(PMM2):c.447+5G>A	rs367852554	0.00002
NM_000303.3(PMM2):c.255G>A (p.Gln85=)	rs115344041	0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)	rs1187245939	0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	rs949271895	0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)	rs78290141	0.00001
NM_000303.3(PMM2):c.66+1G>T	rs937726878	0.00001
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	rs1057520708
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)	rs765433263
NM_000303.3(PMM2):c.448-1_448del	rs1414007551
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser)	rs1156500366
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)	rs940938678
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)	rs2060686245
NM_000303.3(PMM2):c.584A>G (p.His195Arg)	rs1596489887
NM_000303.3(PMM2):c.640-23A>G	rs981372486
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)	rs1555453238
NM_000303.3(PMM2):c.652C>G (p.His218Asp)	rs398123310
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)	rs558826439
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708

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