ClinVar Miner

List of variants reported as likely benign for adrenal cortex disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353 0.07449
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708 0.02027
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000349.2(STAR):c.-172C>T rs16887226 0.01566
NM_000497.4(CYP11B1):c.*1871T>A rs61752818 0.01316
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_001379228.1(MRAP):c.148G>A (p.Val50Met) rs75858661 0.01215
NM_000497.4(CYP11B1):c.*1076C>T rs61752806 0.01209
NM_000529.2(MC2R):c.*427G>A rs150928586 0.01192
NM_000497.4(CYP11B1):c.*193A>T rs61752798 0.01010
NM_000529.2(MC2R):c.*2432A>C rs187121326 0.00999
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000497.4(CYP11B1):c.*1512G>A rs61752814 0.00880
NM_000497.4(CYP11B1):c.*1258G>A rs61752808 0.00878
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133 0.00843
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260 0.00840
NM_001395413.1(POR):c.*207C>G rs41302348 0.00808
NM_000497.4(CYP11B1):c.*468C>T rs114832894 0.00774
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_015665.5(AAAS):c.*32C>T rs138994144 0.00246
NM_000529.2(MC2R):c.*117A>T rs149746538 0.00237
NM_000497.4(CYP11B1):c.*634G>A rs1137481 0.00126
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_000529.2(MC2R):c.98C>T (p.Thr33Ile) rs559032155 0.00087
NM_000529.2(MC2R):c.*2065G>A rs193046675 0.00053
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr) rs554966392 0.00038
NM_015665.6(AAAS):c.327G>T (p.Thr109=) rs190876509 0.00038
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.*718T>G rs189479208 0.00032
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_000529.2(MC2R):c.*2323C>T rs149107575 0.00023
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) rs148205451 0.00021
NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser) rs200448756 0.00021
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987 0.00013
NM_178817.4(MRAP):c.-67C>T rs180872414 0.00011
NM_000529.2(MC2R):c.*1619G>A rs570920789 0.00009
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_000529.2(MC2R):c.*2224A>C rs551809146 0.00004
NM_178817.4(MRAP):c.-91C>T rs565439357 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_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240 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.*193A>C rs61752798
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
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
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_015665.6(AAAS):c.-70T>C rs186975061

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.