ClinVar Miner

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

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Total variants: 14
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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.963C>G (p.Leu321=) rs59359360 0.00160
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722 0.00092
NM_000103.4(CYP19A1):c.639C>T (p.Ile213=) rs147160979 0.00021
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
NM_000103.4(CYP19A1):c.*460G>C rs28757208 0.00009
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg) rs201118855 0.00004
NM_000103.4(CYP19A1):c.*53C>T rs527749263 0.00003
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124 0.00003
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=) rs1380261840

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