ClinVar Miner

List of variants reported as pathogenic by Shenzhen Key Laboratory of Neurogenomics, Beijing Genomics Institute Research, Beijing Genomics Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002749.4(MAPK7):c.886G>A (p.Ala296Thr) rs147296805 0.00015
NM_002749.4(MAPK7):c.1760C>T (p.Pro587Leu) rs758163506 0.00001
NM_002749.4(MAPK7):c.1943C>T (p.Pro648Leu) rs1555613564

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