ClinVar Miner

List of variants in gene SLC5A2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00031
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1280+1G>A rs554372141 0.00004
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) rs750441217 0.00002
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00001
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221

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