List of variants reported as likely pathogenic for Congenital glucose-galactose malabsorption by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)	rs200401846	0.00003
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)	rs927157864	0.00001
NM_000343.4(SLC5A1):c.665-2A>G	rs200105615	0.00001
NM_000343.4(SLC5A1):c.1021+1G>A	rs2149492476
NM_000343.4(SLC5A1):c.207+2T>C
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT	rs764766115
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)	rs121912668

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