ClinVar Miner

List of variants reported as likely benign for aromatase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*2632T>C rs28757213 0.00419
NM_000103.4(CYP19A1):c.*543C>G rs28757209 0.00376
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722 0.00092
NM_000103.4(CYP19A1):c.*460G>C rs28757208 0.00009
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000103.4(CYP19A1):c.*53C>T rs527749263 0.00003
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124 0.00003

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