ClinVar Miner

List of variants studied for Spastic paraplegia by Institute of Human Genetics, University of Wuerzburg

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1312-19C>T rs186277796 0.00073
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) rs369972013 0.00011
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_000399.5(EGR2):c.152T>C (p.Met51Thr) rs1236681093
NM_003119.4(SPG7):c.1779+5G>C rs1567931957
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)

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