ClinVar Miner

List of variants in gene SLC16A2 reported as pathogenic for Spastic paraplegia

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_73744174)_(73749296_?)del
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1193G>A (p.Gly398Asp) rs2147871831
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006517.5(SLC16A2):c.1565del (p.Pro522fs)
NM_006517.5(SLC16A2):c.202G>T (p.Glu68Ter) rs1034820850
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)
NM_006517.5(SLC16A2):c.2T>G (p.Met1Arg)
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs) rs1555979596
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.46C>T (p.Gln16Ter) rs1569280986
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) rs1930398120
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
NM_006517.5(SLC16A2):c.64C>T (p.Gln22Ter)
NM_006517.5(SLC16A2):c.695del (p.Asn232fs) rs1930458591
NM_006517.5(SLC16A2):c.7dup (p.Leu3fs)
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.960_995del (p.Tyr321_Ala332del)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877
NM_006517.5(SLC16A2):c.99_100del (p.Glu34fs) rs2147833883

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