ClinVar Miner

List of variants in gene SLC3A1 reported as pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00028
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1113C>A (p.Tyr371Ter) rs768467260 0.00001
NM_000341.4(SLC3A1):c.1332+2T>A rs758627758 0.00001
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
NC_000002.11:g.(?_44502646)_(44503124_?)del
NC_000002.11:g.(?_44502646)_(44508700_?)del
NC_000002.11:g.(?_44502646)_(44531497_?)del
NC_000002.11:g.(?_44507835)_(44508700_?)del
NC_000002.11:g.(?_44508506)_(44541110_?)del
NC_000002.11:g.(?_44527090)_(44528286_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)del
NC_000002.11:g.(?_44527090)_(44541110_?)dup
NC_000002.12:g.(?_44280696)_(44286177_?)del
NC_000002.12:g.44304143del
NG_008233.1:g.17226_17227[ins17227_48142;GTTTGCATAGGCACAGAATGTAT]
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=) rs772810111
NM_000341.4(SLC3A1):c.1045del (p.Asp349fs)
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) rs1553344107
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1136+1G>T
NM_000341.4(SLC3A1):c.1136+2T>C
NM_000341.4(SLC3A1):c.1158T>A (p.Tyr386Ter)
NM_000341.4(SLC3A1):c.1280_1281insCACAATTACCTCAGCATGCTAGACACTGTTTCTGGGAACAGCGTGTATGAGGT (p.Val427_Ile428insThrIleThrSerAlaCysTer)
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser) rs139251285
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)
NM_000341.4(SLC3A1):c.1447G>T (p.Glu483Ter)
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter) rs2104385536
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) rs387907276
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.163C>T (p.Gln55Ter)
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) rs779932118
NM_000341.4(SLC3A1):c.1764delinsAT (p.Ile589fs)
NM_000341.4(SLC3A1):c.1855A>T (p.Arg619Ter)
NM_000341.4(SLC3A1):c.1904C>A (p.Thr635Lys)
NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)
NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer) rs755432720
NM_000341.4(SLC3A1):c.415_418del (p.Asn139fs)
NM_000341.4(SLC3A1):c.430+1G>A
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) rs121912694
NM_000341.4(SLC3A1):c.618del (p.Lys206fs)
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg) rs369603431
NM_000341.4(SLC3A1):c.664del (p.Trp222fs)
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter) rs542026439
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs) rs747035900
NM_000341.4(SLC3A1):c.850G>T (p.Asp284Tyr)
NM_000341.4(SLC3A1):c.916A>T (p.Lys306Ter) rs768222969

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