ClinVar Miner

List of variants in gene SLC16A2 reported by Ambry Genetics

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Total variants: 67
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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_006517.5(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.538G>A (p.Val180Ile) rs759933264 0.00048
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_006517.5(SLC16A2):c.1502A>G (p.His501Arg) rs140303247 0.00010
NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn) rs746783950 0.00010
NM_006517.5(SLC16A2):c.1590G>A (p.Pro530=) rs150369288 0.00009
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg) rs754443385 0.00004
NM_006517.5(SLC16A2):c.262A>G (p.Thr88Ala) rs751226641 0.00004
NM_006517.5(SLC16A2):c.572C>G (p.Thr191Ser) rs375483786 0.00004
NM_006517.5(SLC16A2):c.676C>T (p.Arg226Cys) rs201194222 0.00004
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_006517.5(SLC16A2):c.1223G>A (p.Arg408Gln) rs770854933 0.00003
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys) rs756065515 0.00002
NM_006517.5(SLC16A2):c.1242C>T (p.Ile414=) rs1364841125 0.00001
NM_006517.5(SLC16A2):c.250G>A (p.Glu84Lys) rs1052769515 0.00001
NM_006517.5(SLC16A2):c.289G>A (p.Gly97Ser) rs1357516055 0.00001
NM_006517.3(SLC16A2):c.-3G>T
NM_006517.3(SLC16A2):c.29T>C (p.Val10Ala)
NM_006517.3(SLC16A2):c.61C>T (p.Leu21=)
NM_006517.3(SLC16A2):c.73G>A (p.Gly25Arg) rs74640724
NM_006517.5(SLC16A2):c.-109C>A
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.-124T>C
NM_006517.5(SLC16A2):c.-128A>G
NM_006517.5(SLC16A2):c.-129G>A
NM_006517.5(SLC16A2):c.1062G>A (p.Lys354=) rs2147870983
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1145C>T (p.Pro382Leu) rs1930480393
NM_006517.5(SLC16A2):c.1222C>T (p.Arg408Trp)
NM_006517.5(SLC16A2):c.1350C>T (p.Tyr450=)
NM_006517.5(SLC16A2):c.1358G>A (p.Gly453Asp)
NM_006517.5(SLC16A2):c.1394T>C (p.Ile465Thr)
NM_006517.5(SLC16A2):c.1405C>T (p.Leu469Phe)
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1474G>A (p.Val492Ile)
NM_006517.5(SLC16A2):c.1563C>G (p.Asp521Glu) rs1411882430
NM_006517.5(SLC16A2):c.1583del (p.Leu528fs) rs1555990320
NM_006517.5(SLC16A2):c.17A>C (p.Gln6Pro)
NM_006517.5(SLC16A2):c.184G>T (p.Ala62Ser)
NM_006517.5(SLC16A2):c.234G>A (p.Glu78=)
NM_006517.5(SLC16A2):c.265G>A (p.Ala89Thr) rs201661705
NM_006517.5(SLC16A2):c.265G>C (p.Ala89Pro) rs201661705
NM_006517.5(SLC16A2):c.28G>T (p.Glu10Ter)
NM_006517.5(SLC16A2):c.348C>A (p.Gly116=) rs1569281195
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs) rs1555979596
NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro) rs1555979604
NM_006517.5(SLC16A2):c.47A>G (p.Gln16Arg)
NM_006517.5(SLC16A2):c.492C>A (p.Phe164Leu) rs1555989369
NM_006517.5(SLC16A2):c.538G>T (p.Val180Phe)
NM_006517.5(SLC16A2):c.617G>A (p.Gly206Asp) rs1930456883
NM_006517.5(SLC16A2):c.62A>G (p.Glu21Gly)
NM_006517.5(SLC16A2):c.644C>A (p.Pro215Gln) rs759410438
NM_006517.5(SLC16A2):c.680G>A (p.Arg227His)
NM_006517.5(SLC16A2):c.70G>A (p.Glu24Lys)
NM_006517.5(SLC16A2):c.781C>T (p.Gln261Ter) rs1930459512
NM_006517.5(SLC16A2):c.797T>G (p.Leu266Arg) rs1930459831
NM_006517.5(SLC16A2):c.844C>G (p.Pro282Ala)
NM_006517.5(SLC16A2):c.91C>T (p.Pro31Ser)
NM_006517.5(SLC16A2):c.92C>T (p.Pro31Leu)
NM_006517.5(SLC16A2):c.936C>T (p.Asn312=)
NM_006517.5(SLC16A2):c.955C>T (p.Arg319Cys)

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