ClinVar Miner

List of variants reported for Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Short stature due to growth hormone qualitative anomaly; Isolated growth hormone deficiency type IB by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000515.5(GH1):c.116C>T (p.Ala39Val)	rs151263636	0.00985
NM_000515.5(GH1):c.291+1G>A	rs71640277
NM_000515.5(GH1):c.456+19G>T	rs61735351

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