ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 45 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.3933A>G (p.Ala1311=) rs112950169 0.00325
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu) rs374363627 0.00025
NM_001386298.1(CIC):c.4326CTC[1] (p.Ser1444del)
NM_001386298.1(CIC):c.6345G>T (p.Gln2115His)
NM_001386298.1(CIC):c.6548C>T (p.Ser2183Leu)

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