ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as benign for adrenal gland disorder

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.118C>T (p.Leu40=) rs6468 0.82940
NM_000500.9(CYP21A2):c.292+9C>T rs6462 0.71669
NM_000500.9(CYP21A2):c.138C>A (p.Pro46=) rs6464 0.70511
NM_000500.9(CYP21A2):c.447+38C>T rs6466 0.27535
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_000500.9(CYP21A2):c.293-80G>A rs79249676 0.01774
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.447+39G>A rs569670804 0.00249
NM_000500.9(CYP21A2):c.651+30G>A rs777741541 0.00019
NM_000500.9(CYP21A2):c.448-50G>A rs780875791 0.00006
NM_000500.9(CYP21A2):c.652-5C>T rs758449746 0.00004
NM_000500.9(CYP21A2):c.293-88G>A rs1282239643 0.00003
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) rs1433029679 0.00001
NM_000500.9(CYP21A2):c.*2G>C rs1182749183
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) rs1188690556
NM_000500.9(CYP21A2):c.203-18G>C rs1582300565
NM_000500.9(CYP21A2):c.292+109C>G rs1582301551
NM_000500.9(CYP21A2):c.293-115C>G rs1582301787
NM_000500.9(CYP21A2):c.293-130C>T rs1582301718
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000500.9(CYP21A2):c.293-89A>G rs1582302040
NM_000500.9(CYP21A2):c.293-91G>A rs1051507539
NM_000500.9(CYP21A2):c.293-94T>A rs1582301962
NM_000500.9(CYP21A2):c.293-95G>C rs1382005578
NM_000500.9(CYP21A2):c.293-96G>T rs1582301922
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=) rs1258749689
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=) rs1582303392
NM_000500.9(CYP21A2):c.448-3C>T rs1582304092
NM_000500.9(CYP21A2):c.550-19C>G rs1582305066
NM_000500.9(CYP21A2):c.651+35A>G rs12525076

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