ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic by Mendelics

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NC_000004.11:g.15601250_15601251delCT rs794729226

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