ClinVar Miner

List of variants reported as uncertain significance for isolated congenital growth hormone deficiency by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (10):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000515.5(GH1):c.217A>G (p.Asn73Asp)	rs71640276	0.00027
NM_000515.5(GH1):c.502A>T (p.Thr168Ser)	rs771280061	0.00001
NM_000515.5(GH1):c.452T>C (p.Met151Thr)	rs1180054712

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