ClinVar Miner

List of variants in gene combination AMPD2, LOC126805822 reported as benign 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.1272T>C (p.His424=) rs863978 0.70414
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010

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