ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 43 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_031448.6(C19orf12):c.118T>G (p.Phe40Val) rs2513299932
NM_031448.6(C19orf12):c.157G>C (p.Val53Leu) rs770151721
NM_031448.6(C19orf12):c.161_170dup (p.Leu60fs) rs2513282210
NM_031448.6(C19orf12):c.36_40del (p.Cys13fs) rs2513300586

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