List of variants in gene ANO1 reported as pathogenic for Moyamoya disease 7

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Gene type: Distinguish antisense genes from sense genes
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_018043.7(ANO1):c.508G>A (p.Glu170Lys)	rs867890923	0.00001
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)	rs2497233087
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)	rs2497302924

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