ClinVar Miner

List of variants in gene SLC17A5 reported as likely pathogenic for inborn disorder of lysosomal amino acid transport

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987 0.00001
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012434.5(SLC17A5):c.1111+1G>A rs777862172 0.00001
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.95-1G>C rs386833995 0.00001
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
NC_000006.11:g.(?_74310064)_(74310174_?)dup
NC_000006.11:g.(?_74345119)_(74347569_?)del
NC_000006.12:g.(?_73610390)_(73615457_?)dup
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)
NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)
NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg) rs1277966688
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs) rs1057517111
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs) rs1554161865
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.1259+1G>T rs146095590
NM_012434.5(SLC17A5):c.1260-2A>C
NM_012434.5(SLC17A5):c.1350+1G>A rs1057516951
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys) rs754150739
NM_012434.5(SLC17A5):c.204del (p.Asp69fs) rs1057516549
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs) rs1057516505
NM_012434.5(SLC17A5):c.215del (p.Thr72fs) rs1057517269
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter) rs1057516257
NM_012434.5(SLC17A5):c.390del (p.Ser131fs)
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter)
NM_012434.5(SLC17A5):c.423del (p.Phe141fs) rs1057516419
NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)
NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)
NM_012434.5(SLC17A5):c.467_525+125del
NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)
NM_012434.5(SLC17A5):c.501_502del (p.Arg168fs)
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
NM_012434.5(SLC17A5):c.543dup (p.Met182fs)
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg) rs119491109
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter)
NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
NM_012434.5(SLC17A5):c.613+1G>A rs1769124033
NM_012434.5(SLC17A5):c.613+2T>A rs1554164078
NM_012434.5(SLC17A5):c.614-1G>A rs1554163958
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter)
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)
NM_012434.5(SLC17A5):c.693del (p.Phe233fs) rs1057516862
NM_012434.5(SLC17A5):c.694_695delinsC (p.Phe232fs)
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.700+2T>C rs1440688652
NM_012434.5(SLC17A5):c.701-1G>A
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs) rs1554163878
NM_012434.5(SLC17A5):c.724_727del (p.Leu242fs)
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs) rs753141230
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) rs1768948534
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.820-2A>C rs1554162842
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)
NM_012434.5(SLC17A5):c.95-1G>A
NM_012434.5(SLC17A5):c.95-1G>T
NM_012434.5(SLC17A5):c.978+1G>A rs2150099218
NM_012434.5(SLC17A5):c.979-1G>T
NM_012434.5(SLC17A5):c.979-2A>G rs1554162230
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) rs386833996
NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716
NM_012434.5:c.579_580insAlu

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