ClinVar Miner

List of variants in gene PGM1 reported as uncertain significance by GeneDx

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.247-5810G>A rs140738630 0.00071
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_002633.3(PGM1):c.734C>T (p.Ala245Val) rs929270819 0.00025
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1465G>T (p.Gly489Cys) rs747867084 0.00004
NM_002633.3(PGM1):c.1214G>A (p.Arg405His) rs765556150 0.00001
NM_002633.3(PGM1):c.1324A>G (p.Met442Val) rs1270696636 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.1605G>C (p.Met535Ile) rs745729340 0.00001
NM_002633.3(PGM1):c.929T>C (p.Val310Ala) rs369532292 0.00001
NM_002633.3(PGM1):c.1087G>C (p.Gly363Arg)
NM_002633.3(PGM1):c.1514G>A (p.Ser505Asn) rs2523941940
NM_002633.3(PGM1):c.458C>T (p.Thr153Ile) rs748231449
NM_002633.3(PGM1):c.982G>A (p.Val328Ile)
NM_002633.3(PGM1):c.997C>T (p.Arg333Trp)

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