ClinVar Miner

List of variants reported as likely pathogenic for Progressive sclerosing poliodystrophy by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.368T>G (p.Val123Gly)

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