ClinVar Miner

List of variants reported as uncertain significance for arterial tortuosity syndrome by Revvity Omics, Revvity

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)	rs144095826	0.00023
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln)	rs143265363	0.00014
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp)	rs781676521

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