ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)	rs267607085
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs)	rs2058667949
NM_003119.4(SPG7):c.808del (p.Tyr270fs)

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