ClinVar Miner

List of variants reported as benign for adrenogenital syndrome by Genome-Nilou Lab

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
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_000497.4(CYP11B1):c.800-45C>T rs7822986 0.59689
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_004285.4(H6PD):c.2019T>C (p.Tyr673=) rs9434742 0.42000
NM_004285.4(H6PD):c.2118A>G (p.Ser706=) rs9434743 0.41917
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_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000176.3(NR3C1):c.1469-16G>T rs6188 0.29351
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_004285.4(H6PD):c.741T>C (p.Ala247=) rs11121350 0.25452
NM_000102.4(CYP17A1):c.436+105A>C rs743575 0.24877
NM_004285.4(H6PD):c.636G>A (p.Ala212=) rs7524046 0.20778
NM_000102.4(CYP17A1):c.666+35T>C rs1004467 0.13602
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_004285.3(H6PD):c.-7_1delCCCAGGCA

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