ClinVar Miner

List of variants reported as pathogenic by Choi Lab,Seoul National University

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Total variants: 2
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HGVS dbSNP
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767

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