ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 3A by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046

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