List of variants reported as pathogenic for Congenital isolated adrenocorticotropic hormone deficiency by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)	rs74315376	0.00005
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)	rs200197424	0.00004
NM_005149.3(TBX19):c.158_159del (p.Arg53fs)	rs763818059
NM_005149.3(TBX19):c.265del (p.Leu89fs)	rs1558190339
NM_005149.3(TBX19):c.665+1del	rs1558192351
NM_005149.3(TBX19):c.782del (p.Asn261fs)	rs730880274

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