ClinVar Miner

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

Included ClinVar conditions (1):

Arterial tortuosity syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	rs121908173	0.00010
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)	rs121908172	0.00004

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