ClinVar Miner

List of variants studied for Progressive sclerosing poliodystrophy by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter) rs1567185775

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