ClinVar Miner

List of variants in gene PACS2 reported by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.502G>A (p.Glu168Lys) rs374606643 0.00002
NM_001100913.3(PACS2):c.1813G>A (p.Val605Met) rs782312228 0.00001
NM_001100913.3(PACS2):c.2272G>A (p.Glu758Lys) rs140331410 0.00001
NM_001100913.3(PACS2):c.148G>A (p.Val50Met) rs587618706
NM_001100913.3(PACS2):c.2268del (p.Ala757fs) rs2544898688
NM_001100913.3(PACS2):c.2479A>C (p.Lys827Gln) rs2544900638

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