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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:143956502
GRCh38:
Chr8:142875086
CYP11B1Deficiency of steroid 11-beta-monooxygenasePathogenic
(Oct 1, 1997)
no assertion criteria provided
2.
GRCh37:
Chr8:143961106
GRCh38:
Chr8:142879690
CYP11B1Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasiaGO-ESP:0.00008(A)
GO-ESP:0.00003(A)
Pathogenic
(Oct 1, 1997)
no assertion criteria provided
3.
GRCh37:
Chr8:143957293
GRCh38:
Chr8:142875877
CYP11B1Deficiency of steroid 11-beta-monooxygenaseGO-ESP:0.00001(A)Pathogenic
(Oct 1, 1997)
no assertion criteria provided
4.
GRCh37:
Chr8:143958637
GRCh38:
Chr8:142877221
CYP11B1Deficiency of steroid 11-beta-monooxygenasePathogenic
(Oct 1, 1997)
no assertion criteria provided
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