ClinVar Miner

List of variants studied for Familial renal glucosuria by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Total variants: 12
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HGVS dbSNP
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) rs1555496083
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr) rs772983040
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met) rs771307472
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003041.4(SLC5A2):c.885+5G>A rs200228142

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