List of variants reported as pathogenic for Isolated growth hormone deficiency, type 4 by OMIM

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Total variants: 7

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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.57+1G>A	rs2302022	0.00007
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)	rs121918118	0.00003
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	rs121918119	0.00001
NC_000007.14:g.30963945A>C	rs2128596101
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	rs121918120
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	rs121918121

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