ClinVar Miner

List of variants reported as benign for synucleinopathy by Genome-Nilou Lab

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003085.5(SNCB):c.121+6T>C rs4868669 0.97242
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) rs892028 0.95154
NM_018052.5(VAC14):c.811+43G>A rs1875941 0.85073
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81792
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=) rs335614 0.70706
NM_001385079.1(PDE10A):c.1890-19T>C rs220749 0.70008
NM_018052.5(VAC14):c.1662-47C>G rs9673700 0.62185
NM_018052.5(VAC14):c.1306-7C>T rs2305689 0.60841
NM_018052.5(VAC14):c.1306-27G>A rs2305690 0.59646
NM_018052.5(VAC14):c.424-18T>C rs2271047 0.40128
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) rs1062798 0.34519
NM_001385079.1(PDE10A):c.1692G>A (p.Ala564=) rs220740
NM_018052.5(VAC14):c.2115G>T (p.Pro705=) rs2278983

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