ClinVar Miner

List of variants studied for congenital adrenal hyperplasia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter) rs755186597 0.00001
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=) rs1776234662
NM_000500.9(CYP21A2):c.1131C>G (p.Tyr377Ter)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1478A>G (p.Gln493Arg)
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.60G>C (p.Trp20Cys)
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
NM_000500.9(CYP21A2):c.710_719del (p.Ile237fs)
NM_000500.9(CYP21A2):c.803C>G (p.Pro268Arg)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs) rs1776193326
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) rs1776217797
NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)
NM_001395413.1(POR):c.1184A>C (p.Glu395Ala)

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