ClinVar Miner

List of variants reported as benign for Aromatase deficiency by Natera, Inc.

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*161T>G rs4646 0.70442
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518 0.39802
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519 0.07673
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184 0.03319
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277 0.03055
NM_000103.4(CYP19A1):c.451+8G>A rs28892004 0.00118
NM_000103.4(CYP19A1):c.475C>T (p.Arg159Cys) rs201842322 0.00047
NM_000103.4(CYP19A1):c.75C>T (p.Thr25=) rs745979108 0.00010
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) rs2304461 0.00009
NM_000103.4(CYP19A1):c.1370G>A (p.Arg457Gln) rs770120065

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