ClinVar Miner

List of variants reported for Progressive sclerosing poliodystrophy by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 3
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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) rs11394094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096

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