ClinVar Miner

List of variants studied for adrenal gland disorder by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) rs1567529174
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal) rs1567530910
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) rs1601792367

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