ClinVar Miner

List of variants reported for Intellectual disability, autosomal recessive 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229

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