ClinVar Miner

List of variants reported as uncertain significance for Parkinson disease 13, autosomal dominant, susceptibility to by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_013247.4(HTRA2):c.-361G>A rs757541077 0.00041
NM_013247.5(HTRA2):c.*267C>T rs184230827 0.00027
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_013247.5(HTRA2):c.1046-13C>T rs542851656 0.00009
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) rs758108369 0.00008
NM_013247.4(HTRA2):c.-598G>A rs71640291 0.00006
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=) rs781540048 0.00006
NM_013247.4(HTRA2):c.*513T>A rs886056348 0.00003
NM_013247.5(HTRA2):c.873T>C (p.Asn291=) rs775948550 0.00002
NM_013247.4(HTRA2):c.-136C>T rs886056343 0.00001
NM_013247.4(HTRA2):c.-236G>C rs886056341 0.00001
NM_013247.4(HTRA2):c.-314G>A rs377647662 0.00001
NM_013247.4(HTRA2):c.-359G>A rs886056340 0.00001
NM_013247.5(HTRA2):c.*249G>C rs775428682 0.00001
NM_013247.5(HTRA2):c.937C>T (p.Leu313=) rs766035905 0.00001
NM_181575.5(AUP1):c.25C>T (p.Pro9Ser) rs777371915 0.00001
NM_013247.4(HTRA2):c.*537G>A rs886056349
NM_013247.4(HTRA2):c.-136C>G rs886056343
NM_013247.4(HTRA2):c.-216G>A rs886056342
NM_013247.4(HTRA2):c.-86G>C rs886056344
NM_013247.5(HTRA2):c.*265C>T rs1016550488
NM_013247.5(HTRA2):c.*291G>A rs886056347
NM_013247.5(HTRA2):c.1079G>A (p.Arg360His) rs1475151932
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) rs886056346
NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr) rs886056345
NM_013247.5(HTRA2):c.507-10T>A rs747756166
NM_013247.5(HTRA2):c.507-9C>A rs151291127
NM_013247.5(HTRA2):c.825T>C (p.Val275=) rs777650346

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