ClinVar Miner

List of variants in gene SLC7A14 reported by Dept Of Ophthalmology, Nagoya University

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=) rs3732449 0.29156
NM_020949.3(SLC7A14):c.1129G>A (p.Val377Ile) rs114883808 0.00760
NM_020949.3(SLC7A14):c.795C>T (p.Phe265=) rs75845001 0.00194
NM_020949.3(SLC7A14):c.1890T>G (p.Pro630=) rs147757465 0.00089
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg) rs2276717 0.00058
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755 0.00044
NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys) rs181011740 0.00011
NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=) rs550936938 0.00009
NM_020949.3(SLC7A14):c.586G>A (p.Ala196Thr) rs761119299 0.00009
NM_020949.3(SLC7A14):c.953C>T (p.Thr318Met) rs149289989 0.00009
NM_020949.3(SLC7A14):c.1244C>T (p.Thr415Met) rs200090294 0.00006
NM_020949.3(SLC7A14):c.1667G>A (p.Arg556Gln) rs767484956 0.00006
NM_020949.3(SLC7A14):c.1705G>A (p.Val569Met) rs147231592 0.00006
NM_020949.3(SLC7A14):c.725C>T (p.Ala242Val) rs756436577 0.00004
NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=) rs758898781 0.00003
NM_020949.3(SLC7A14):c.2047G>A (p.Ala683Thr) rs777189956 0.00003
NM_020949.3(SLC7A14):c.636C>T (p.Gly212=) rs765250467 0.00002
NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=) rs200086652 0.00001
NM_020949.3(SLC7A14):c.2282T>C (p.Ile761Thr) rs778261436 0.00001
NM_020949.3(SLC7A14):c.582G>A (p.Leu194=) rs776940063 0.00001
NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=) rs145787666
NM_020949.3(SLC7A14):c.1574C>A (p.Ser525Tyr)
NM_020949.3(SLC7A14):c.1682C>T (p.Thr561Met)
NM_020949.3(SLC7A14):c.1778A>G (p.Gln593Arg)
NM_020949.3(SLC7A14):c.1923G>C (p.Leu641=)
NM_020949.3(SLC7A14):c.1923G>T (p.Leu641=)
NM_020949.3(SLC7A14):c.2040A>C (p.Glu680Asp)
NM_020949.3(SLC7A14):c.2113G>A (p.Glu705Lys)
NM_020949.3(SLC7A14):c.2225G>A (p.Arg742Gln)
NM_020949.3(SLC7A14):c.404T>C (p.Ile135Thr)
NM_020949.3(SLC7A14):c.520G>A (p.Val174Met) rs147696235
NM_020949.3(SLC7A14):c.594C>T (p.Ile198=)

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