ClinVar Miner

List of variants studied for hereditary spastic paraplegia 12 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln) rs1262346281 0.00001
NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)
NM_005619.5(RTN2):c.148G>T (p.Glu50Ter) rs1162797495
NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)
NM_005619.5(RTN2):c.926del (p.Gly309fs)

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