ClinVar Miner

List of variants reported as uncertain significance for Congenital adrenal hyperplasia by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000198.3(HSD3B2):c.-145G>A rs35226381 0.00744
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00114
NM_000102.3(CYP17A1):c.-166G>C rs58519757 0.00041
NM_000497.4(CYP11B1):c.*737C>T rs748684062 0.00015
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306

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