List of variants studied for Allan-Herndon-Dudley syndrome by Mendelics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)	rs1602143383
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)	rs1602143432
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)	rs2147871919
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)	rs794727799
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)	rs1602099961
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)	rs1602099961

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