ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (131):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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