ClinVar Miner

List of variants reported as likely pathogenic for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.2629A>G (p.Met877Val) rs754025885 0.00001
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.1251-2A>G rs2055536585
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.1837C>G (p.His613Asp) rs147407423
NM_002693.3(POLG):c.2063G>A (p.Trp688Ter)
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.3(POLG):c.3483-3C>G
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816

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