ClinVar Miner

List of variants in gene POLG reported as likely pathogenic for Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type

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Total variants: 4
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NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.3(POLG):c.3282del (p.Ser1095fs) rs1596350117
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605

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