ClinVar Miner

List of variants studied for Deficiency of steroid 17-alpha-monooxygenase by Fulgent Genetics, Fulgent Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=) rs1043151688 0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.654C>T (p.Val218=) rs375350911 0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=) rs755050448 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=) rs766679884 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=) rs778591928 0.00001
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=) rs61754264
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=) rs150698224
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842

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