ClinVar Miner

List of variants in gene CYP21A2 studied for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
CYP21A2, 30-KB DEL
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
NC_000006.11:g.(32006589_32006870)_(32007026_32007132)dup
NC_000006.11:g.(32006589_32006870)_(32007983_32008182)dup
NC_000006.11:g.(32007026_32007132)_(32007235_32007322)del
NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
NC_000006.11:g.(32007425_32007525)_(32007613_32007781)del
NC_000006.11:g.(?_32006191)_(32006402_32006498)del
NM_000500.7:c.*28697405C>T
NM_000500.7:c.*28697972C>G
NM_000500.7:c.*28698024_*28698031del8
NM_000500.7:c.*28698317T>A
NM_000500.7:c.*28699001G>T
NM_000500.7:c.*28699080dupT
NM_000500.7:c.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.*18C>T rs1582314321
NM_000500.9:c.(?_-50)_(939+1_940-1)del

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