ClinVar Miner

List of variants reported as likely pathogenic for Allan-Herndon-Dudley syndrome by 3billion, Medical Genetics

Included ClinVar conditions (1):

Allan-Herndon-Dudley syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)	rs2147871837
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)	rs2147350836
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)	rs2147870528

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