ClinVar Miner

List of variants reported as benign for Congenital glucose-galactose malabsorption by Invitae

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Total variants: 17
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HGVS dbSNP
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460
NM_000343.4(SLC5A1):c.1772-6G>A
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317

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