ClinVar Miner

List of variants studied for adrenal gland disease by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075

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