ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as benign for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000500.7(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.7(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.7(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.25_27dup (p.Leu10_Pro11insLeu) rs61338903

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