ClinVar Miner

List of variants reported as benign for Pontocerebellar hypoplasia type 9

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_001368809.2(AMPD2):c.91+180C>G rs186745159 0.09427
NM_001368809.2(AMPD2):c.-263+18T>C rs28362580 0.09386
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801

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