List of variants in gene combination GH-LCR, GH1 reported as uncertain significance for congenital hypogonadotropic hypogonadism

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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: 8

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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.246G>C (p.Glu82Asp)	rs61762497	0.00009
NM_000515.5(GH1):c.309C>T (p.Arg103=)	rs886053236	0.00001
NM_000515.5(GH1):c.502A>T (p.Thr168Ser)	rs771280061	0.00001
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)	rs1907477324
NM_000515.5(GH1):c.302T>C (p.Leu101Pro)	rs1907452711
NM_000515.5(GH1):c.452T>C (p.Met151Thr)	rs1180054712
NM_000515.5(GH1):c.588G>A (p.Met196Ile)	rs1907385621

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