ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*161T>G rs4646 0.70442
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422 0.46134
NM_000103.4(CYP19A1):c.*1601G>A rs12148604 0.46111
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518 0.39802
NM_000103.4(CYP19A1):c.*2170G>A rs2255192 0.24198
NM_000103.4(CYP19A1):c.*2467G>A rs934634 0.23681
NM_000103.4(CYP19A1):c.*2511G>A rs934633 0.09620
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519 0.07673
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082 0.03938
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184 0.03319
NM_000103.4(CYP19A1):c.*2039G>T rs35636804 0.03201
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277 0.03055
NM_000103.4(CYP19A1):c.*1296T>C rs28757212 0.02370
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176 0.00628
NM_000103.4(CYP19A1):c.42C>G (p.Thr14=) rs61203654 0.00627
NM_000103.4(CYP19A1):c.*1190C>T rs28757210 0.00584
NM_000103.4(CYP19A1):c.*2723A>G rs2289104 0.00409
NM_000103.4(CYP19A1):c.*280A>T rs77828415 0.00341
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=) rs59359360 0.00160
NM_000103.4(CYP19A1):c.*108A>G rs28757207 0.00019
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) rs2304461 0.00009
NM_000103.4(CYP19A1):c.*2624C>T rs562193184 0.00002
NM_000103.4(CYP19A1):c.*1888A>G rs4275794

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