ClinVar Miner

List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as benign for Aromatase deficiency

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*161T>G rs4646 0.70442
NM_000103.4(CYP19A1):c.*1601G>A rs12148604 0.46111
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422 0.45798
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518 0.39685
NM_000103.4(CYP19A1):c.*2170G>A rs2255192 0.24313
NM_000103.4(CYP19A1):c.*2467G>A rs934634 0.23844
NM_000103.4(CYP19A1):c.*1888A>G rs4275794 0.16667
NM_000103.4(CYP19A1):c.*2511G>A rs934633 0.09620
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519 0.08141
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184 0.03608
NM_000103.4(CYP19A1):c.*2039G>T rs35636804 0.03278
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277 0.02885
NM_000103.4(CYP19A1):c.*1296T>C rs28757212 0.02370
NM_000103.4(CYP19A1):c.*1190C>T rs28757210 0.00584
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176 0.00583
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.451+8G>A rs28892004 0.00118
NM_000103.4(CYP19A1):c.475C>T (p.Arg159Cys) rs201842322 0.00047
NM_000103.4(CYP19A1):c.*108A>G rs28757207 0.00019
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.*2624C>T rs562193184 0.00002
NM_000103.4(CYP19A1):c.1370G>A (p.Arg457Gln) rs770120065

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