ClinVar Miner

List of variants in gene HTRA2, LOXL3 studied for Parkinson disease 13, autosomal dominant, susceptibility to

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.*94C>T rs79220020 0.03334
NM_032603.5(LOXL3):c.*237G>T rs71640295 0.02253
NM_032603.5(LOXL3):c.*90T>C rs114661282 0.01397
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) rs150357486 0.00050
NM_032603.5(LOXL3):c.*178A>T rs71640296 0.00039
NM_013247.5(HTRA2):c.*267C>T rs184230827 0.00027
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) rs758108369 0.00008
NM_032603.5(LOXL3):c.*108A>T rs886056348 0.00003
NM_013247.5(HTRA2):c.*249G>C rs775428682 0.00001
NM_013247.5(HTRA2):c.*265C>T rs1016550488
NM_013247.5(HTRA2):c.*291G>A rs886056347
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) rs886056346
NM_032603.5(LOXL3):c.*84C>T rs886056349

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