List of variants in gene GHRHR reported as pathogenic for isolated congenital growth hormone deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.1069C>T (p.Arg357Cys)	rs376948691	0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp)	rs758798716	0.00001
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)	rs121918119	0.00001
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C	rs2128596101
NC_000007.14:g.31008681G>T	rs1562606449
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)	rs121918120
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)	rs2128598609
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)	rs121918121

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