ClinVar Miner

List of variants reported as pathogenic for adrenal gland disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549

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