ClinVar Miner

List of variants in gene AUP1, HTRA2 studied for Parkinson disease 13, autosomal dominant, susceptibility to

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181575.5(AUP1):c.129C>G (p.Leu43=) rs1183739 0.11203
NM_181575.5(AUP1):c.90C>G (p.Leu30=) rs376231592 0.00111
NM_181575.5(AUP1):c.-17C>T rs757541077 0.00041
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.141C>T (p.Ile47=) rs71640291 0.00006
NM_181575.5(AUP1):c.-19C>T rs886056340 0.00001
NM_181575.5(AUP1):c.-64C>T rs377647662 0.00001
NM_181575.5(AUP1):c.25C>T (p.Pro9Ser) rs777371915 0.00001
NM_181575.5(AUP1):c.51-4C>T rs769713877 0.00001

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