List of variants in gene combination GH-LCR, GH1 reported as likely pathogenic for isolated congenital growth hormone deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000515.5(GH1):c.626G>A (p.Arg209His)	rs137853223	0.00001
NM_000515.5(GH1):c.131A>C (p.His44Pro)	rs754126557
NM_000515.5(GH1):c.254C>T (p.Pro85Leu)	rs1567803095
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)

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