ClinVar Miner

List of variants studied for Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Short stature due to growth hormone qualitative anomaly; Isolated growth hormone deficiency type IB

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Total variants: 5
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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.-4T>G rs6173
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.456+19G>T rs61735351
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345

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