ClinVar Miner

List of variants in gene GM2A reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_000405.5(GM2A):c.*28C>T rs9324685 0.08802
NM_000405.5(GM2A):c.458T>C (p.Val153Ala) rs61740602 0.07011
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719 0.03595
NM_000405.5(GM2A):c.427-22C>T rs183697013 0.00131

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