ClinVar Miner

List of variants in gene SLC7A7 reported by Baylor Genetics

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg) rs72552272 0.00002
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs) rs386833809 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer) rs748127544 0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) rs773357652 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
GRCh37/hg19 14q11.2(chr14:23242388-23245542)
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)
NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter) rs771254387
NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)
NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter) rs121908678
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs) rs2139383552
NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs) rs1489021418
NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)
NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)
NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)
NM_003982.4(SLC7A7):c.177del (p.Lys60fs)
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe) rs2039348270
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)
NM_003982.4(SLC7A7):c.516del (p.Asn173fs) rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs) rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>T rs386833822
NM_003982.4(SLC7A7):c.626-2A>T
NM_003982.4(SLC7A7):c.669del (p.Phe223fs)
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter) rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter) rs2139394686
NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)
NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.928del (p.Trp310fs)
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) rs2038594225
NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)
NM_003982.4(SLC7A7):c.999-1G>C

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