ClinVar Miner

List of variants in gene MCOLN1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) rs612862 0.28776
NM_020533.3(MCOLN1):c.877+26A>G rs2305889 0.27574
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_020533.3(MCOLN1):c.405+13G>A rs73488492 0.01978
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_020533.3(MCOLN1):c.619G>A (p.Asp207Asn) rs147718736 0.00027
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=) rs1164919725

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