ClinVar Miner

List of variants in gene SLC5A2 reported as uncertain significance by Gharavi Laboratory, Columbia University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003041.4(SLC5A2):c.890T>C (p.Ile297Thr) rs1055355510 0.00001
NM_003041.4(SLC5A2):c.1309T>C (p.Ser437Pro) rs1567390826
NM_003041.4(SLC5A2):c.1346dup (p.Gly450fs) rs765873464
NM_003041.4(SLC5A2):c.1552_1573dup (p.His525fs) rs987447860
NM_003041.4(SLC5A2):c.175_184del (p.Gly59fs) rs1567387443
NM_003041.4(SLC5A2):c.187del (p.Val63fs) rs1567387460

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