ClinVar Miner

List of variants reported as likely pathogenic for Combined pituitary hormone deficiencies, genetic form

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_001374353.1(GLI2):c.2515del (p.Asp839fs)
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_178138.6(LHX3):c.629C>T (p.Ala210Val) rs137854503

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