ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 8 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_014846.4(WASHC5):c.2168A>G (p.His723Arg) rs2130055560
NM_014846.4(WASHC5):c.2950A>G (p.Asn984Asp)
NM_014846.4(WASHC5):c.296T>A (p.Phe99Tyr)
NM_014846.4(WASHC5):c.2T>C (p.Met1Thr)

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