ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by 3billion, Medical Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277

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