ClinVar Miner

List of variants studied for congenital isolated adrenocorticotropic hormone deficiency by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
K146R
NM_005149.3(TBX19):c.257T>G (p.Met86Arg) rs74315378
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe) rs74315377
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274

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