ClinVar Miner

List of variants in gene SLC19A3 reported as uncertain significance for not provided

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile) rs147502239 0.00036
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) rs142166552 0.00034
NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val) rs146949876 0.00026
NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn) rs138839321 0.00022
NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val) rs372637185 0.00019
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) rs116533505 0.00019
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala) rs746272588 0.00012
NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr) rs754794859 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr) rs996377339 0.00008
NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys) rs189540672 0.00007
NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala) rs201544540 0.00006
NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser) rs200971390 0.00006
NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu) rs1248803297 0.00005
NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn) rs376305641 0.00003
NM_025243.4(SLC19A3):c.500T>A (p.Met167Lys) rs376414109 0.00003
NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn) rs201274864 0.00003
NM_025243.4(SLC19A3):c.217C>T (p.Leu73Phe) rs373943165 0.00002
NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe) rs898880170 0.00002
NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys) rs1131691470 0.00001
NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe) rs755120020 0.00001
NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr) rs540774490 0.00001
NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val) rs764398318 0.00001
NM_025243.4(SLC19A3):c.225T>C (p.Asp75=) rs886044447 0.00001
NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr) rs367620430 0.00001
NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys) rs770685804 0.00001
NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu) rs202145913 0.00001
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr) rs766950682 0.00001
NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn) rs773705000 0.00001
NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala) rs756864477 0.00001
NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile) rs372511010 0.00001
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1
GRCh37/hg19 2q36.3(chr2:228534817-228656069)x3
GRCh37/hg19 2q36.3(chr2:228562089-228649448)x1
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.*8G>T rs188532608
NM_025243.4(SLC19A3):c.113A>G (p.Tyr38Cys) rs766975844
NM_025243.4(SLC19A3):c.1148A>G (p.Tyr383Cys) rs1057524556
NM_025243.4(SLC19A3):c.1173-4A>T rs367737262
NM_025243.4(SLC19A3):c.1173-7A>G rs1286201155
NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly) rs150523975
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.1378A>G (p.Ile460Val) rs1574540571
NM_025243.4(SLC19A3):c.198del (p.Leu67fs)
NM_025243.4(SLC19A3):c.307G>A (p.Val103Met)
NM_025243.4(SLC19A3):c.328G>A (p.Glu110Lys)
NM_025243.4(SLC19A3):c.355G>T (p.Ala119Ser) rs367620430
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.39T>G (p.Ile13Met) rs2106332726
NM_025243.4(SLC19A3):c.466G>A (p.Val156Met) rs774845903
NM_025243.4(SLC19A3):c.472G>A (p.Ala158Thr) rs2106329144
NM_025243.4(SLC19A3):c.488C>A (p.Ser163Tyr) rs898880170
NM_025243.4(SLC19A3):c.58T>A (p.Cys20Ser)
NM_025243.4(SLC19A3):c.718A>C (p.Thr240Pro)
NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro) rs542566978
NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala) rs1559249124
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu) rs2106328576

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