ClinVar Miner

List of variants reported as pathogenic for Salla disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
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.1259+1G>A rs146095590 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs) rs1768947811 0.00001
NC_000006.11:g.(?_72596727)_(74363609_?)del
NC_000006.11:g.(?_74304790)_(74310174_?)del
NC_000006.11:g.(?_74304790)_(74354336_?)del
NC_000006.11:g.(?_74304800)_(74331705_?)del
NC_000006.11:g.(?_74310054)_(74310184_?)del
NC_000006.11:g.(?_74310064)_(74310174_?)del
NC_000006.11:g.(?_74320103)_(74320290_?)del
NC_000006.11:g.(?_74325018)_(74325190_?)del
NC_000006.11:g.(?_74331507)_(74331705_?)del
NC_000006.11:g.(?_74345095)_(74345233_?)del
NC_000006.11:g.(?_74345095)_(74346440_?)del
NC_000006.11:g.(?_74354110)_(74363609_?)del
NC_000006.11:g.(?_74363496)_(74363609_?)del
NC_000006.12:g.(?_73641681)_(73644613_?)del
NC_000006.12:g.(?_73644397)_(73644613_?)del
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs) rs868677428
NM_012434.5(SLC17A5):c.1259+2T>C rs1064794334
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.146del (p.Gly49fs) rs2150120888
NM_012434.5(SLC17A5):c.157del (p.Val53fs) rs2150120881
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*)
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter) rs1474077825
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs) rs772039085
NM_012434.5(SLC17A5):c.3del (p.Met1fs)
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu) rs2150115214
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
NM_012434.5(SLC17A5):c.699del (p.Phe233fs) rs779548058
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
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.757C>T (p.Gln253Ter)
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.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs) rs2150099393
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter) rs1057516601
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter) rs766036082
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs) rs2150099225
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter) rs745386414
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
NM_012434.5(SLC17A5):c.998del (p.Leu333fs) rs779494716

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