ClinVar Miner

List of variants reported as benign 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: 9
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HGVS dbSNP gnomAD frequency
NM_181575.5(AUP1):c.129C>G (p.Leu43=) rs1183739 0.11203
NM_013247.5(HTRA2):c.*94C>T rs79220020 0.03334
NM_032603.5(LOXL3):c.*237G>T rs71640295 0.02253
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_032603.5(LOXL3):c.*90T>C rs114661282 0.01397
NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro) rs150047108 0.00200
NM_032603.5(LOXL3):c.*178A>T rs71640296 0.00039
NM_013247.4(HTRA2):c.-146G>A rs569404179 0.00001

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