ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006517.5(SLC16A2):c.1088T>C (p.Ile363Thr)	rs1930479467
NM_006517.5(SLC16A2):c.1341_1347del (p.Ile448fs)
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)	rs1363308293
NM_006517.5(SLC16A2):c.1400-1G>C	rs2519810008

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