ClinVar Miner

List of variants in gene PGM1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.683-22A>T rs6588052 0.45082
NM_002633.3(PGM1):c.1600-23G>T rs11208265 0.29721
NM_002633.3(PGM1):c.1464+14G>T rs2269238 0.25474
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) rs11208257 0.21027
NM_002633.3(PGM1):c.*22C>T rs8294 0.17190
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16859
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_002633.3(PGM1):c.1599+9C>T rs115864084 0.01520
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_002633.3(PGM1):c.529T>G (p.Leu177Val) rs112293909 0.00014
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002633.3(PGM1):c.1144+3A>T
NM_002633.3(PGM1):c.683-23_683-22delinsTT rs386631849
NM_002633.3(PGM1):c.754G>C (p.Val252Leu) rs139155697

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