ClinVar Miner

List of variants reported as pathogenic for Isolated growth hormone deficiency, type 4 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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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.431T>A (p.Leu144His)	rs121918118	0.00003
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp)	rs758798716	0.00001

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