ClinVar Miner

List of variants reported as likely pathogenic for PMM2-congenital disorder of glycosylation by Baylor Genetics

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.178+1G>A rs935962174 0.00002
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 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.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.179-25A>G
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
NM_000303.3(PMM2):c.201_202del (p.Phe68fs) rs1343161886
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.317A>G (p.Tyr106Cys)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.345dup (p.Arg116fs) rs1057516757
NM_000303.3(PMM2):c.347+2T>C
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.348-2del rs2141022949
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.488_491del (p.Lys163fs) rs2060678732
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
NM_000303.3(PMM2):c.55del (p.Ala19fs) rs1596481889
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter) rs201855351
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter) rs201440361
NM_000303.3(PMM2):c.584_585del (p.His195fs)
NM_000303.3(PMM2):c.599_603del (p.Gly200fs)
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
NM_000303.3(PMM2):c.639+1G>A rs1057517183
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)

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