ClinVar Miner

List of variants studied for adrenal gland disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000244.3(MEN1):c.643_646del (p.Thr215fs) rs794728640
NM_000546.5(TP53):c.2588dup rs1555523630
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.741_742delinsTT (p.Arg248Trp) rs1555525498
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550

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