ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs) rs2058667949
NM_003119.4(SPG7):c.808del (p.Tyr270fs)

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