ClinVar Miner

List of variants in gene SLC16A1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_003051.4(SLC16A1):c.303T>G (p.Ile101Met) rs148691598 0.00010
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.943T>A (p.Ser315Thr) rs1218022056 0.00001
NM_003051.4(SLC16A1):c.102T>C (p.Tyr34=)
NM_003051.4(SLC16A1):c.1101C>T (p.Phe367=)
NM_003051.4(SLC16A1):c.362-58TATT[13] rs149491709
NM_003051.4(SLC16A1):c.41C>G (p.Pro14Arg) rs763038298
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.703G>A (p.Gly235Arg)
NM_003051.4(SLC16A1):c.749A>T (p.Asn250Ile)

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