ClinVar Miner

List of variants studied for Striatonigral degeneration, childhood-onset by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018052.5(VAC14):c.811+43G>A rs1875941 0.85073
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_018052.5(VAC14):c.2115G>T (p.Pro705=) rs2278983

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