ClinVar Miner

List of variants in gene combination AMPD2, LOC126805822 reported as likely pathogenic for Pontocerebellar hypoplasia type 9

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225

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