ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.111_116del (p.34_35EP[4]) rs1555979545
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.653_660del (p.Val218fs)
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs) rs2147833877

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