ClinVar Miner

List of variants studied for Isolated growth hormone deficiency type IB by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000823.4(GHRHR):c.975-6C>A rs117572522 0.00088
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) rs202243828 0.00023
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009

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