ClinVar Miner

List of variants in gene SLC16A2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_006517.5(SLC16A2):c.634G>A (p.Ala212Thr) rs376266144 0.00013
NM_006517.5(SLC16A2):c.525C>T (p.Thr175=) rs754816447 0.00005
NM_006517.5(SLC16A2):c.1430A>G (p.His477Arg) rs754443385 0.00004
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.1488C>T (p.Phe496=) rs1064797374 0.00001
NM_006517.5(SLC16A2):c.-114GGCAGC[4] rs760787234
NM_006517.5(SLC16A2):c.-3G>C
NM_006517.5(SLC16A2):c.1090G>A (p.Gly364Arg) rs2147870991
NM_006517.5(SLC16A2):c.129C>G (p.Pro43=)
NM_006517.5(SLC16A2):c.1301T>C (p.Ile434Thr)
NM_006517.5(SLC16A2):c.1421_1432del (p.Gly474_His477del) rs2147350808
NM_006517.5(SLC16A2):c.1538G>C (p.Ser513Thr)
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.512G>A (p.Arg171Gln) rs1602140961
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006517.5(SLC16A2):c.759G>A (p.Leu253=)
NM_006517.5(SLC16A2):c.86del (p.Pro29fs) rs2147833856

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