ClinVar Miner

List of variants in gene SLC16A2 reported as likely pathogenic for Allan-Herndon-Dudley syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer) rs2147871837
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) rs2147871919
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs) rs2147350836
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.431-2A>G rs2147869490
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter) rs1930396705
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.607del (p.Ile203fs) rs2147870528
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter) rs2147870607
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877

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