ClinVar Miner

List of variants in gene SOX9 reported as pathogenic for 46,XX disorder of sex development

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup
NC_000017.10:g.69521863_69670036dup
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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