ClinVar Miner

List of variants in gene PMM2 reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 97
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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.359T>C (p.Ile120Thr) rs368582085 0.00006
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.24del (p.Cys9fs) rs768021123 0.00004
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.691G>A (p.Val231Met) rs80338707 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.178+1G>A rs935962174 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
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.548T>C (p.Phe183Ser) rs780581250 0.00002
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter) rs199562225 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.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.256-1G>C rs757394782 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 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.395T>C (p.Ile132Thr) rs80338702 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.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929 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.66+1G>T rs937726878 0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533 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.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.16_22del (p.Pro6fs) rs2141014102
NM_000303.3(PMM2):c.173del (p.Asn58fs)
NM_000303.3(PMM2):c.179-1G>C
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.196dup (p.Tyr66fs)
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.243_244del (p.Leu82fs) rs2060637616
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
NM_000303.3(PMM2):c.256-1G>A
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.28del (p.Leu10fs)
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
NM_000303.3(PMM2):c.348-2A>G
NM_000303.3(PMM2):c.365del (p.Phe122fs)
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
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.451_454del rs1274794195
NM_000303.3(PMM2):c.458_462del (p.Ile153fs) rs774738702
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.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.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
NM_000303.3(PMM2):c.66+1del rs1555495965
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
NM_000303.3(PMM2):c.67-1G>C
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) rs151319324
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)

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