ClinVar Miner

List of variants studied for Cryptorchidism; Hypertelorism; Clubfoot; Tapered finger; Abnormal facial shape; Short nose; Intellectual disability; Short distal phalanx of toe; Neuropathic spinal arthropathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	rs1554846212

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