ClinVar Miner

List of variants in gene combination AUP1, HTRA2 reported as likely benign 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: 4
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HGVS dbSNP gnomAD frequency
NM_181575.5(AUP1):c.90C>G (p.Leu30=) rs376231592 0.00111
NM_181575.5(AUP1):c.-15C>T rs371791263 0.00031
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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