ClinVar Miner

List of variants reported as likely pathogenic for arterial tortuosity syndrome by Genetics Department, Hospital De La Santa Creu I Sant Pau

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)	rs572620317
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)

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