ClinVar Miner

List of variants in gene SLC16A2 reported by Eurofins NTD LLC (GA)

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu) rs201853949 0.00122
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_006517.4(SLC16A2):c.-155G>C rs981437658
NM_006517.4(SLC16A2):c.-199G>T rs794726930
NM_006517.5(SLC16A2):c.-114GGCAGC[2] rs760787234
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.316G>C (p.Ala106Pro) rs794726931
NM_006517.5(SLC16A2):c.326G>A (p.Trp109Ter) rs794726932
NM_006517.5(SLC16A2):c.327G>A (p.Trp109Ter) rs1569281190
NM_006517.5(SLC16A2):c.353A>C (p.His118Pro) rs794726933
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.46C>T (p.Gln16Ter) rs1569280986
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) rs794727509
NM_006517.5(SLC16A2):c.647C>T (p.Ser216Phe) rs398124232
NM_006517.5(SLC16A2):c.839A>G (p.Tyr280Cys) rs398124231
Single allele

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