ClinVar Miner

List of variants reported as likely benign for adrenogenital syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NC_000008.11:g.38150990G>A
NM_000176.3(NR3C1):c.*1220_*1225dup rs72542761
NM_000176.3(NR3C1):c.*1880A>G
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1570A>G (p.Thr524Ala) rs567965061
NM_000176.3(NR3C1):c.193T>G (p.Phe65Val) rs6192
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000349.3(STAR):c.*456C>T
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138del rs148110533
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000497.4(CYP11B1):c.*193A>C
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.203-46C>T rs6452
NM_000500.9(CYP21A2):c.292+37T>A rs184177366
NM_000500.9(CYP21A2):c.292+45_292+46insTGT rs1422458709
NM_000500.9(CYP21A2):c.292+56T>G rs543633765
NM_000500.9(CYP21A2):c.293-136C>T rs1582301685
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000941.3(POR):c.*207C>G
NM_000941.3(POR):c.1236C>T (p.Ser412=) rs41301424
NM_000941.3(POR):c.1953T>G (p.Ala651=) rs370865328
NM_000941.3(POR):c.1959C>T (p.Leu653=) rs41301442
NM_000941.3(POR):c.246C>T (p.Asn82=) rs1585126959
NM_000941.3(POR):c.344C>T (p.Ala115Val) rs199634961
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.531G>T (p.Gly177=) rs72557913
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941
NM_001018077.1(NR3C1):c.-1008C>T
NM_001018077.1(NR3C1):c.-445A>G
NM_001018077.1(NR3C1):c.-616T>G
NM_001018077.1(NR3C1):c.-620G>A
NM_001018077.1(NR3C1):c.-958G>T

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