ClinVar Miner

List of variants studied for ATP6AP2-related disorder

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=) rs372993268 0.00007
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949 0.00001
NM_005765.3(ATP6AP2):c.858+4A>G rs2518966944

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