ClinVar Miner

List of variants reported as pathogenic for Arterial tortuosity syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)	rs756457861	0.00001
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)	rs587776600

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