ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NC_000006.11:g.5610223_5726369del
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr) rs145555213
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392

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