ClinVar Miner

List of variants in gene GH-LCR, GH1 studied for Isolated growth hormone deficiency type IB

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	rs61762497	0.00009
NM_000515.5(GH1):c.456+1G>C	rs797044449
NM_000515.5(GH1):c.456+1G>T	rs797044449
NM_000515.5(GH1):c.456+5G>C	rs863223308

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