ClinVar Miner

List of variants studied for Congenital adrenal hyperplasia by Illumina Clinical Services Laboratory,Illumina

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Total variants: 13
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HGVS dbSNP
NM_000102.3(CYP17A1):c.-166G>C rs58519757
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306
NM_000349.3(STAR):c.*967del rs11326306
NM_000497.3(CYP11B1):c.*1138del rs148110533
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_001166120.2(HSD3B2):c.-90+57G>A rs35226381

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