ClinVar Miner

List of variants reported as uncertain significance for Deficiency of steroid 17-alpha-monooxygenase by Natera, Inc.

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=) rs112892739 0.00009
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 0.00006
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=) rs779167465 0.00004
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=) rs369081864 0.00004
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=) rs146311005 0.00003
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=) rs767962487 0.00002
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=) rs752346898
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys) rs746813353
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn) rs370973897
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=) rs1844146929

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