ClinVar Miner

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

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Total variants: 5
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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.527C>T (p.Ala176Val) rs774281185 0.00002
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) rs758798716 0.00001
NM_000823.4(GHRHR):c.847T>C (p.Trp283Arg)

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