ClinVar Miner

List of variants in gene SLC16A2 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu) rs201853949 0.00122
NM_006517.5(SLC16A2):c.447C>T (p.Leu149=) rs200444038 0.00066
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg) rs140303247 0.00010
NM_006517.5(SLC16A2):c.890G>A (p.Arg297His) rs780086745 0.00001
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.111_116del (p.34_35EP[4]) rs1555979545
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.239C>T (p.Thr80Met) rs797045964
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.325T>C (p.Trp109Arg) rs2147834066
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.629C>T (p.Ser210Phe) rs746493490
NM_006517.5(SLC16A2):c.850del (p.Leu284fs) rs2147870613
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383

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