ClinVar Miner

List of variants reported as likely 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: 10
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HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_013247.5(HTRA2):c.354G>A (p.Leu118=) rs199735424 0.00121
NM_181575.5(AUP1):c.90C>G (p.Leu30=) rs376231592 0.00111
NM_013247.5(HTRA2):c.627A>G (p.Arg209=) rs149169879 0.00078
NM_013247.5(HTRA2):c.510C>T (p.His170=) rs200747610 0.00053
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) rs150357486 0.00050
NM_181575.5(AUP1):c.-15C>T rs371791263 0.00031
NM_013247.5(HTRA2):c.1046-5C>G rs374529449 0.00016
NM_181575.5(AUP1):c.-54C>T rs374306906 0.00014
NM_181575.5(AUP1):c.51-4C>T rs769713877 0.00001

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