ClinVar Miner

List of variants reported as likely benign for adrenal gland hyperfunction by Illumina Laboratory Services, Illumina

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000497.4(CYP11B1):c.*1138del rs148110533 0.00599
NM_000890.5(KCNJ5):c.*449A>T rs115414355 0.00584
NM_000498.3(CYP11B2):c.-14G>C rs6440 0.00397
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297 0.00097
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462 0.00029
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047 0.00025
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) rs148205451 0.00021
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987 0.00013
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791 0.00006
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) rs373736765 0.00004
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) rs762347776 0.00003
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189 0.00002
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392 0.00002
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574 0.00002
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) rs754660381 0.00001
NM_000497.4(CYP11B1):c.*1555del rs548944247
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.4(CYP11B1):c.954+9G>C rs6411
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) rs760339298

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