ClinVar Miner

List of variants studied for adrenocortical insufficiency by MGZ Medical Genetics Center

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) rs1423560123
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_015665.6(AAAS):c.1448del (p.Pro483fs)

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