ClinVar Miner

List of variants in gene SMC1A reported as pathogenic for Global developmental delay; Hirsutism; Hypertonia; Microcephaly; Progressive sensorineural hearing impairment; Abnormality of the heart valves

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Total variants: 1
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HGVS dbSNP
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773

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