List of variants reported as uncertain significance for isolated congenital growth hormone deficiency by Baylor Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000823.4(GHRHR):c.975-6C>A	rs117572522	0.00088
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)	rs147098353	0.00044
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)	rs202243828	0.00023
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)	rs61762497	0.00009
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.588G>A (p.Met196Ile)	rs1907385621
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)

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