ClinVar Miner

List of variants studied for Isolated growth hormone deficiency, type 4 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) rs376948691 0.00001
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)

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