ClinVar Miner

List of variants reported as not provided by Research and Development, ARUP Laboratories

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ClinVar version:
Total variants: 110
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HGVS dbSNP
G12_L477del
L97L
NM_003060.3(SLC22A5):c.1202dupA (p.Tyr401Terfs) rs121908887
NM_003060.3(SLC22A5):c.653_824del (p.Thr219Serfs) rs1554087460
NM_003060.4(SLC22A5):c.*47C>T rs1045020
NM_003060.4(SLC22A5):c.-149G>A rs57262206
NM_003060.4(SLC22A5):c.-185= rs2631366
NM_003060.4(SLC22A5):c.-207= rs2631367
NM_003060.4(SLC22A5):c.-38= rs1045018
NM_003060.4(SLC22A5):c.-77G>A rs13180295
NM_003060.4(SLC22A5):c.-78C>T rs13180043
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs) rs1554085861
NM_003060.4(SLC22A5):c.1009del (p.Thr337fs) rs386134213
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr) rs150544263
NM_003060.4(SLC22A5):c.1051T>C (p.Trp351Arg) rs68018207
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter) rs72552731
NM_003060.4(SLC22A5):c.1175_1177TGC[2] (p.Leu394del) rs386134215
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891
NM_003060.4(SLC22A5):c.1267+3_1267+23del rs386134216
NM_003060.4(SLC22A5):c.1268-34A>G rs11568515
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs) rs386134217
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe) rs72552733
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys) rs386134218
NM_003060.4(SLC22A5):c.1342G>T (p.Val448Leu) rs386134219
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala) rs202088921
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu) rs377767445
NM_003060.4(SLC22A5):c.1392_1409delinsCA (p.Val465fs) rs386134220
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu) rs72552735
NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe) rs11568513
NM_003060.4(SLC22A5):c.1451-1G>A rs386134224
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.148del (p.Cys50fs) rs386134227
NM_003060.4(SLC22A5):c.1556_1557AC[4] (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.1586+1G>T rs386134226
NM_003060.4(SLC22A5):c.1587-38A>C rs11568523
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525
NM_003060.4(SLC22A5):c.207G>C (p.Leu69=) rs377767446
NM_003060.4(SLC22A5):c.235del (p.His79fs) rs377767447
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=) rs377767448
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.265_266insGGCTCGCCACC (p.Ile89fs) rs386134189
NM_003060.4(SLC22A5):c.278C>G (p.Ser93Trp) rs386134190
NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val) rs386134191
NM_003060.4(SLC22A5):c.285= (p.Leu95=) rs2631365
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly) rs386134192
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.393+17G>A rs11568522
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter) rs72552727
NM_003060.4(SLC22A5):c.3G>T (p.Met1Ile) rs121908892
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194
NM_003060.4(SLC22A5):c.456_457TG[1] (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.4dup (p.Arg2fs) rs377767443
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu) rs386134196
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser) rs386134198
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.64_66TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.652+1G>A rs386134200
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003060.4(SLC22A5):c.652+77A>G rs274559
NM_003060.4(SLC22A5):c.652_653insTATGGCCATCAGGTTGGAG (p.Gly218fs) rs1561570804
NM_003060.4(SLC22A5):c.653-2A>C rs386134201
NM_003060.4(SLC22A5):c.674C>T (p.Ser225Leu) rs386134205
NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe) rs386134206
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819
NM_003060.4(SLC22A5):c.768G>A (p.Trp256Ter) rs386134202
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203
NM_003060.4(SLC22A5):c.806del (p.Leu269fs) rs386134204
NM_003060.4(SLC22A5):c.807= (p.Leu269=) rs274558
NM_003060.4(SLC22A5):c.824+13= rs274557
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter) rs386134207
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe) rs386134208
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile) rs72552724
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210
NM_003060.4(SLC22A5):c.847T>A (p.Trp283Arg) rs72552729
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg) rs72552729
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys) rs386134211
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp) rs72552730
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725

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