ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met) rs527316620 0.00005
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229

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