ClinVar Miner

List of variants studied for Laron syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (5):

Laron-type isolated somatotropin defect
Laron-type isolated somatotropin defect; Hypercholesterolemia, familial, 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency; Hypercholesterolemia, familial, 1
Laron-type isolated somatotropin defect; Short stature due to partial GHR deficiency; Hypercholesterolemia, familial, 1; Short stature due to growth hormone secretagogue receptor deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000163.5(GHR):c.267-1155_333del
NM_000163.5(GHR):c.70+5G>A	rs2112477601
NM_000163.5(GHR):c.723C>T (p.Gly241=)

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