ClinVar Miner

List of variants studied for congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_000102.4(CYP17A1):c.-14G>A rs17115125 0.00562
NM_000102.4(CYP17A1):c.*65C>A rs537220295 0.00051
NM_000102.4(CYP17A1):c.753+13G>A rs201956379 0.00036
NM_000102.4(CYP17A1):c.298-11G>C rs188885755 0.00031
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys) rs142037395 0.00018
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) rs145117545 0.00009
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) rs374769118 0.00008
NM_000102.4(CYP17A1):c.-33G>A rs754158354 0.00006
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 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.1019G>A (p.Arg340His) rs765987481 0.00003
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.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) rs772903405
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) rs539435111
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) rs1485258085
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158

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