ClinVar Miner

List of variants in gene PMM2 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 21
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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.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
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.255+1G>A rs1060499598 0.00002
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.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.448-1_448del rs1414007551
NM_000303.3(PMM2):c.451_454del rs1274794195
NM_000303.3(PMM2):c.527G>T (p.Gly176Val) rs940938678
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439

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