ClinVar Miner

List of variants in gene PMM2 reported as likely pathogenic by Invitae

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Total variants: 61
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HGVS dbSNP gnomAD frequency
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.52A>C (p.Thr18Pro) rs757040733 0.00001
NC_000016.10:g.(?_8847701)_(8847845_?)del
NC_000016.9:g.(?_8895646)_(8895777_?)dup
NC_000016.9:g.(?_8898599)_(8898710_?)dup
NM_000303.3(PMM2):c.130G>A (p.Val44Ile) rs2060618497
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
NM_000303.3(PMM2):c.178+2T>G rs1555448922
NM_000303.3(PMM2):c.179-1G>C
NM_000303.3(PMM2):c.179-2A>G rs2141019036
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.347+1G>A rs1057517117
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.348-2del rs2141022949
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg) rs104894530
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys) rs2141023054
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
NM_000303.3(PMM2):c.447+2T>A rs1567160054
NM_000303.3(PMM2):c.448-1G>A rs762937296
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.448-2A>G rs2141023331
NM_000303.3(PMM2):c.448-2A>T rs2141023331
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr) rs2141024241
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter) rs1202400777
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
NM_000303.3(PMM2):c.66_66+1delinsTA
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)

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