ClinVar Miner

List of variants studied for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.2057G>C (p.Ser686Thr) rs2532473815
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro) rs201192755
NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala) rs1760036753
NM_014423.4(AFF4):c.734dup (p.Ser246fs) rs2532575160

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