ClinVar Miner

List of variants studied for Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr

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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.1050T>C (p.Asp350=) rs79790275 0.00136
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00013
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069

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