ClinVar Miner

List of variants in gene SLC3A1 reported as likely 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.566C>T (p.Thr189Met) rs140317484 0.00287
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.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp) rs765828196 0.00005
NM_000341.4(SLC3A1):c.766-2A>C rs201376169 0.00001
NC_000002.11:g.(?_44508506)_(44508700_?)dup
NM_000341.4(SLC3A1):c.1011+3A>G rs1206425661
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=) rs772810111
NM_000341.4(SLC3A1):c.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.1060C>T (p.Gln354Ter)
NM_000341.4(SLC3A1):c.1091T>C (p.Phe364Ser)
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln) rs567478582
NM_000341.4(SLC3A1):c.1094G>C (p.Arg365Pro)
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu) rs567478582
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
NM_000341.4(SLC3A1):c.1134C>G (p.Tyr378Ter)
NM_000341.4(SLC3A1):c.1136+2T>C
NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)
NM_000341.4(SLC3A1):c.1190A>G (p.Tyr397Cys)
NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys) rs1672093819
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)
NM_000341.4(SLC3A1):c.1364C>T (p.Ser455Leu)
NM_000341.4(SLC3A1):c.1366C>T (p.Arg456Cys)
NM_000341.4(SLC3A1):c.1373G>T (p.Gly458Val)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1401G>C (p.Met467Ile)
NM_000341.4(SLC3A1):c.1409dup (p.Thr471fs)
NM_000341.4(SLC3A1):c.1432A>C (p.Thr478Pro)
NM_000341.4(SLC3A1):c.1437C>G (p.Tyr479Ter)
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs) rs767801148
NM_000341.4(SLC3A1):c.1617+1G>A
NM_000341.4(SLC3A1):c.1617+1dup rs2104385579
NM_000341.4(SLC3A1):c.1617+5G>A
NM_000341.4(SLC3A1):c.1617+5G>T
NM_000341.4(SLC3A1):c.183del (p.Val62fs)
NM_000341.4(SLC3A1):c.2017T>G (p.Cys673Gly)
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.430+1G>A
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.431-3_464delinsTAAATATA
NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter)
NM_000341.4(SLC3A1):c.611-1G>A
NM_000341.4(SLC3A1):c.647C>A (p.Thr216Lys)
NM_000341.4(SLC3A1):c.665G>A (p.Trp222Ter)
NM_000341.4(SLC3A1):c.679C>T (p.Arg227Trp)
NM_000341.4(SLC3A1):c.765+1G>T
NM_000341.4(SLC3A1):c.809G>T (p.Arg270Leu)
NM_000341.4(SLC3A1):c.891+2T>C rs2104342335
NM_000341.4(SLC3A1):c.891+4A>G
NM_000341.4(SLC3A1):c.899del (p.Leu300fs)
NM_000341.4(SLC3A1):c.907T>C (p.Trp303Arg)
NM_000341.4(SLC3A1):c.909G>A (p.Trp303Ter)
NM_000341.4(SLC3A1):c.928G>A (p.Gly310Ser)
NM_000341.4(SLC3A1):c.960_961insTC (p.Glu321fs)

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