ClinVar Miner

List of variants studied for adrenogenital syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000500.9(CYP21A2):c.738+12_738+13inv rs71552100
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472

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