List of variants reported as likely pathogenic for arterial tortuosity syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_030777.4(SLC2A10):c.1411+2T>A	rs761721442	0.00011
NM_030777.4(SLC2A10):c.1288+2T>C	rs768848335	0.00001
NM_030777.4(SLC2A10):c.1289-2A>G
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu)	rs376346077
NM_030777.4(SLC2A10):c.5-2A>G	rs770701918

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