List of variants in gene CYP17A1 reported as uncertain significance for Deficiency of steroid 17-alpha-monooxygenase

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)	rs61754263	0.00114
NM_000102.4(CYP17A1):c.*65C>A	rs537220295	0.00052
NM_000102.4(CYP17A1):c.753+13G>A	rs201956379	0.00031
NM_000102.4(CYP17A1):c.298-11G>C	rs188885755	0.00028
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)	rs147557447	0.00023
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)	rs142037395	0.00017
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)	rs145117545	0.00009
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=)	rs112892739	0.00009
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)	rs374769118	0.00009
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly)	rs142435666	0.00007
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=)	rs554217514	0.00006
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)	rs567775035	0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)	rs376074317	0.00005
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=)	rs779167465	0.00004
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)	rs765987481	0.00003
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)	rs146311005	0.00003
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)	rs539435111	0.00002
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=)	rs767962487	0.00002
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=)	rs369081864	0.00002
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His)	rs746480412	0.00002
NM_000102.4(CYP17A1):c.*130C>T	rs886046665	0.00001
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)	rs766043032	0.00001
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)	rs1844174531	0.00001
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met)	rs931528592	0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)	rs370973897	0.00001
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)	rs202092158	0.00001
NM_000102.4(CYP17A1):c.*67C>A	rs886046666
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)	rs752346898
NM_000102.4(CYP17A1):c.1096G>T (p.Val366Leu)
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)	rs772903405
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)	rs104894143
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val)	rs138630127
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)	rs746813353
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn)	rs370973897
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)	rs2493243189
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=)	rs1844146929
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)	rs1485258085
NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn)	rs104894150

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