List of variants in gene PMM2 reported as pathogenic by GeneDx

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)	rs80338709	0.00027
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)	rs141498002	0.00017
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)	rs764353860	0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)	rs148032587	0.00014
NM_000303.3(PMM2):c.255+2T>C	rs139716296	0.00007
NM_000303.3(PMM2):c.24del (p.Cys9fs)	rs768021123	0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)	rs746610168	0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met)	rs80338707	0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)	rs80338701	0.00003
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)	rs191295403	0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)	rs104894526	0.00002
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)	rs759513930	0.00001
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)	rs770458492	0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	rs80338700	0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)	rs150577656	0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)	rs760265100	0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)	rs149530060	0.00001
NM_000303.3(PMM2):c.-167G>T	rs1596481676
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)	rs1057520708
NM_000303.3(PMM2):c.160dup (p.Glu54fs)	rs753122961
NM_000303.3(PMM2):c.324del (p.Ile110fs)	rs1555449314
NM_000303.3(PMM2):c.385G>A (p.Val129Met)	rs104894525
NM_000303.3(PMM2):c.392del (p.Pro131fs)	rs1555449607
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)	rs80338703
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)	rs80338708

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