ClinVar Miner

List of variants studied for Spastic paraplegia 84, autosomal recessive by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) rs144363917 0.00013
NM_058004.4(PI4KA):c.5159C>T (p.Thr1720Ile) rs2147194890
NM_058004.4(PI4KA):c.5456AAG[1] (p.Glu1820del) rs1925715512
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs) rs139598272

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