ClinVar Miner

List of variants in gene SLC7A7 reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val) rs121908677 0.00010
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.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.1147_1151dup (p.Tyr384Ter) rs386833798 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)
NC_000014.8:g.(?_23241431)_(23290020_?)del
NC_000014.8:g.(?_23242421)_(23285111_?)del
NC_000014.8:g.(?_23242430)_(23245528_23248001)del
NC_000014.8:g.(?_23242819)_(23282607_?)del
NC_000014.8:g.(?_23282099)_(23285111_?)del
NC_000014.9:g.(?_22773212)_(22776328_?)del
NC_000014.9:g.(?_22773212)_(22780061_?)del
NC_000014.9:g.(?_22773590)_(22776338_?)del
NC_000014.9:g.(?_22773590)_(22780071_?)del
NC_000014.9:g.(?_22773610)_(22776318_?)del
NC_000014.9:g.(?_22778783)_(22780061_?)del
NC_000014.9:g.(?_22812880)_(22813418_?)del
NC_000014.9:g.22774114_22774118del rs2139383657
NG_012851.2:g.(19502_21380)_(21922_54769)del
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1028_1031dup (p.Pro345fs)
NM_003982.4(SLC7A7):c.1095+2del rs1555320639
NM_003982.4(SLC7A7):c.1098dup (p.Ile367fs)
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter) rs771254387
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1215del (p.Arg404_Trp405insTer)
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.126_129del (p.Val43fs) rs2039349935
NM_003982.4(SLC7A7):c.1281C>A (p.Cys427Ter)
NM_003982.4(SLC7A7):c.1288_1307delinsATCC (p.Phe430fs)
NM_003982.4(SLC7A7):c.1354_1355del (p.Ser452fs)
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.1400del (p.Lys467fs) rs2139383000
NM_003982.4(SLC7A7):c.1429+1G>C
NM_003982.4(SLC7A7):c.1429+2T>C
NM_003982.4(SLC7A7):c.158_159delinsGA (p.Ser53Ter)
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003982.4(SLC7A7):c.285del (p.Thr96fs)
NM_003982.4(SLC7A7):c.293dup (p.Lys99fs) rs2039344714
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
NM_003982.4(SLC7A7):c.371del (p.Leu124fs) rs2138662323
NM_003982.4(SLC7A7):c.394C>T (p.Gln132Ter)
NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer) rs2039339219
NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)
NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter) rs1029500488
NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs) rs2039336515
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003982.4(SLC7A7):c.501T>A (p.Cys167Ter)
NM_003982.4(SLC7A7):c.516del (p.Asn173fs) rs2038690553
NM_003982.4(SLC7A7):c.537G>A (p.Trp179Ter)
NM_003982.4(SLC7A7):c.539del (p.Gly180fs) rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs) rs2139397147
NM_003982.4(SLC7A7):c.616del (p.Gly207fs)
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>C rs386833822
NM_003982.4(SLC7A7):c.625+1G>T rs386833822
NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs) rs769721689
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
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.770+1del rs2139394672
NM_003982.4(SLC7A7):c.816_822del (p.Ile273fs)
NM_003982.4(SLC7A7):c.889dup (p.Ala297fs) rs2139388749
NM_003982.4(SLC7A7):c.894+1G>C
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.895-2_895delinsCCATT rs1594944871
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) rs2038594225
NM_003982.4(SLC7A7):c.949del (p.Ala317fs) rs2139387978
NM_003982.4(SLC7A7):c.970_989del (p.Leu324fs)
NM_003982.4(SLC7A7):c.998+1G>T rs386833828
NM_003982.4(SLC7A7):c.[1228C>T;1387del]

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