ClinVar Miner

List of variants reported as likely benign for congenital lipoid adrenal hyperplasia due to STAR deficency by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388

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