ClinVar Miner

List of variants studied for Congenital glucose-galactose malabsorption by Mendelics

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Total variants: 3
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HGVS dbSNP
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629

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