ClinVar Miner

List of variants reported as likely pathogenic for Isolated growth hormone deficiency, type 4 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000823.4(GHRHR):c.1120_1123del (p.Ile374fs)
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu)	rs570281194
NM_000823.4(GHRHR):c.558_559insA (p.Phe187fs)
NM_000823.4(GHRHR):c.812+2_812+3del

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