ClinVar Miner

List of variants reported as likely benign for Pontocerebellar hypoplasia type 9 by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_001368809.2(AMPD2):c.1699-11T>C rs188035528 0.00087
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_001368809.2(AMPD2):c.2124C>T (p.Ser708=) rs147146700 0.00031
NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=) rs371970036 0.00024
NM_001368809.2(AMPD2):c.699C>T (p.Pro233=) rs778185309 0.00001

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