ClinVar Miner

List of variants in gene SLC13A5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) rs146385318 0.00041
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) rs149068818 0.00016
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00013
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=) rs141481217 0.00011
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) rs764993670 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
NM_177550.5(SLC13A5):c.156A>G (p.Glu52=)
NM_177550.5(SLC13A5):c.1686T>C (p.Asn562=)
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=) rs768939788
NM_177550.5(SLC13A5):c.272T>G (p.Leu91Arg) rs1555543400
NM_177550.5(SLC13A5):c.369-8C>A rs1597673184
NM_177550.5(SLC13A5):c.676G>A (p.Gly226Arg) rs758275567
NM_177550.5(SLC13A5):c.732C>T (p.Ser244=)

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