ClinVar Miner

List of variants studied for Rotor syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) rs7311358 0.71410
NM_019844.4(SLCO1B3):c.360-3C>T rs3764009 0.71397
NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=) rs2053098 0.71374
NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) rs4149117 0.70446
NM_019844.4(SLCO1B3):c.-90C>T rs7305323 0.65420
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_006446.5(SLCO1B1):c.*463A>G rs4149088 0.38803
NM_006446.5(SLCO1B1):c.*439T>G rs4149087 0.38797
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819 0.12387
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_006446.5(SLCO1B1):c.*449A>C rs11045891 0.11312
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.11112
NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) rs60140950 0.10532
NM_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683 0.03895
NM_019844.4(SLCO1B3):c.-180-7T>G rs76069495 0.03595
NM_006446.5(SLCO1B1):c.1248G>A (p.Val416=) rs11045859 0.02933
NM_006446.5(SLCO1B1):c.*167T>C rs4149085 0.01882
NM_006446.5(SLCO1B1):c.1086C>T (p.Tyr362=) rs57040246 0.01802
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_006446.5(SLCO1B1):c.*575G>A rs61760249 0.01303
NM_006446.5(SLCO1B1):c.1452C>T (p.Pro484=) rs74064211 0.01133
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala) rs59502379 0.01105
NM_006446.5(SLCO1B1):c.882G>A (p.Leu294=) rs11045854 0.00971
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00971
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.00969
NM_006446.5(SLCO1B1):c.728-17_728-14del rs150936610 0.00968
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) rs61736830 0.00862
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_019844.4(SLCO1B3):c.*642G>A rs77957556 0.00684
NM_006446.5(SLCO1B1):c.*121G>C rs74064260 0.00654
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) rs79382866 0.00482
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00438
NM_006446.5(SLCO1B1):c.*46T>G rs71581985 0.00395
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) rs115227445 0.00361
NM_006446.5(SLCO1B1):c.1747+9A>G rs71577817 0.00351
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) rs77851390 0.00265
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_019844.3(SLCO1B3):c.-241G>A rs59312184 0.00136
NM_019844.4(SLCO1B3):c.*548A>T rs117703648 0.00136
NM_019844.4(SLCO1B3):c.1855G>A (p.Val619Ile) rs202234562 0.00105
NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met) rs142673817 0.00097
NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln) rs11045853 0.00093
NM_019844.4(SLCO1B3):c.*622G>A rs555196020 0.00083
NM_006446.5(SLCO1B1):c.*481T>C rs71581986 0.00078
NM_019844.4(SLCO1B3):c.*509T>C rs554075376 0.00065
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe) rs61736817 0.00050
NM_019844.4(SLCO1B3):c.727+7A>G rs376199890 0.00046
NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu) rs146780296 0.00045
NM_006446.5(SLCO1B1):c.*328A>G rs4149086 0.00042
NM_006446.5(SLCO1B1):c.*40C>G rs79775553 0.00038
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_019844.4(SLCO1B3):c.*540G>A rs758379038 0.00031
NM_019844.4(SLCO1B3):c.727+10A>G rs201736270 0.00029
NM_006446.5(SLCO1B1):c.1498-12A>G rs80208935 0.00028
NM_019844.4(SLCO1B3):c.1865+11G>A rs376331163 0.00026
NM_019844.4(SLCO1B3):c.*641C>T rs1024598614 0.00024
NM_006446.5(SLCO1B1):c.317T>C (p.Ile106Thr) rs200227560 0.00021
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_006446.5(SLCO1B1):c.1034C>T (p.Thr345Met) rs61760243 0.00017
NM_006446.5(SLCO1B1):c.1622A>T (p.Gln541Leu) rs71581988 0.00016
NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) rs554933268 0.00016
NM_019844.4(SLCO1B3):c.592G>A (p.Asp198Asn) rs368649517 0.00015
NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln) rs61760182 0.00014
NM_019844.4(SLCO1B3):c.*562G>T rs545934577 0.00014
NM_019844.4(SLCO1B3):c.1332-15A>G rs201114863 0.00014
NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile) rs369529563 0.00013
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_006446.5(SLCO1B1):c.1309G>A (p.Gly437Arg) rs142965323 0.00011
NM_006446.5(SLCO1B1):c.1322C>A (p.Thr441Asn) rs141779296 0.00011
NM_006446.5(SLCO1B1):c.1865C>T (p.Ser622Leu) rs368052440 0.00011
NM_006446.5(SLCO1B1):c.184T>C (p.Ser62Pro) rs144164853 0.00010
NM_006446.5(SLCO1B1):c.2032C>T (p.His678Tyr) rs200995543 0.00010
NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr) rs145144129 0.00010
NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His) rs180875376 0.00010
NM_006446.5(SLCO1B1):c.1877T>A (p.Leu626Ter) rs183624077 0.00009
NM_006446.5(SLCO1B1):c.452A>G (p.Asn151Ser) rs2306282 0.00009
NM_019844.4(SLCO1B3):c.*610A>G rs751963988 0.00009
NM_019844.4(SLCO1B3):c.1272A>G (p.Leu424=) rs4149143 0.00009
NM_006446.5(SLCO1B1):c.2040C>A (p.Val680=) rs200467000 0.00008
NM_006446.5(SLCO1B1):c.66A>T (p.Arg22Ser) rs142087529 0.00008
NM_006446.5(SLCO1B1):c.703G>A (p.Val235Met) rs147421160 0.00008
NM_019844.4(SLCO1B3):c.*362A>C rs1005654068 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=) rs777458586 0.00007
NM_006446.5(SLCO1B1):c.639T>A (p.Asn213Lys) rs752897663 0.00006
NM_019844.4(SLCO1B3):c.*8T>C rs372418887 0.00006
NM_019844.4(SLCO1B3):c.1135+8A>G rs372493449 0.00006
NM_019844.4(SLCO1B3):c.1217G>A (p.Gly406Glu) rs374932005 0.00006
NM_019844.4(SLCO1B3):c.1308C>T (p.Ala436=) rs147428265 0.00006
NM_006446.5(SLCO1B1):c.1135+14T>G rs140270687 0.00005
NM_019844.4(SLCO1B3):c.1074C>T (p.Tyr358=) rs145036538 0.00005
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) rs150039066 0.00005
NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=) rs373432026 0.00005
NM_006446.5(SLCO1B1):c.1983T>C (p.Asn661=) rs768771124 0.00004
NM_006446.5(SLCO1B1):c.695A>C (p.Lys232Thr) rs374328647 0.00004
NM_019844.4(SLCO1B3):c.*136C>T rs766036895 0.00004
NM_019844.4(SLCO1B3):c.176T>C (p.Phe59Ser) rs778668812 0.00004
NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr) rs200793002 0.00004
NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=) rs144143469 0.00004
NM_006446.5(SLCO1B1):c.*197T>C rs886049146 0.00003
NM_006446.5(SLCO1B1):c.-62+1G>A rs753044871 0.00003
NM_006446.5(SLCO1B1):c.1327G>C (p.Asp443His) rs150573622 0.00003
NM_006446.5(SLCO1B1):c.169C>T (p.Arg57Trp) rs139257324 0.00003
NM_006446.5(SLCO1B1):c.1794G>A (p.Thr598=) rs201556175 0.00003
NM_006446.5(SLCO1B1):c.1976C>G (p.Ser659Ter) rs745619193 0.00003
NM_006446.5(SLCO1B1):c.633A>G (p.Ile211Met) rs201722521 0.00003
NM_019844.4(SLCO1B3):c.*307T>C rs886049140 0.00003
NM_019844.4(SLCO1B3):c.-181+15G>C rs59793824 0.00003
NM_019844.4(SLCO1B3):c.973T>A (p.Phe325Ile) rs775841876 0.00003
NM_006446.5(SLCO1B1):c.1829G>A (p.Arg610His) rs769518588 0.00002
NM_019844.4(SLCO1B3):c.-145G>C rs1184025537 0.00002
NM_019844.4(SLCO1B3):c.1747+5G>A rs748582575 0.00002
NM_019844.4(SLCO1B3):c.471A>G (p.Ile157Met) rs748685876 0.00002
NM_006446.5(SLCO1B1):c.*126T>C rs1352089009 0.00001
NM_006446.5(SLCO1B1):c.-104A>G rs886049143 0.00001
NM_006446.5(SLCO1B1):c.-3A>C rs180888034 0.00001
NM_006446.5(SLCO1B1):c.1007C>G (p.Pro336Arg) rs72559747 0.00001
NM_006446.5(SLCO1B1):c.1032G>C (p.Leu344Phe) rs960742177 0.00001
NM_006446.5(SLCO1B1):c.124A>C (p.Thr42Pro) rs780511571 0.00001
NM_006446.5(SLCO1B1):c.1465T>A (p.Cys489Ser) rs144733213 0.00001
NM_006446.5(SLCO1B1):c.1498-15T>C rs763873797 0.00001
NM_006446.5(SLCO1B1):c.314G>T (p.Gly105Val) rs773434165 0.00001
NM_006446.5(SLCO1B1):c.84+2T>G rs1017205455 0.00001
NM_019844.4(SLCO1B3):c.1004A>G (p.Asn335Ser) rs886049136 0.00001
NM_019844.4(SLCO1B3):c.148A>G (p.Ile50Val) rs761530247 0.00001
NM_019844.4(SLCO1B3):c.1741A>G (p.Thr581Ala) rs779952599 0.00001
NM_019844.4(SLCO1B3):c.1747+3A>G rs533193038 0.00001
NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) rs775442032 0.00001
NM_019844.4(SLCO1B3):c.712G>A (p.Gly238Arg) rs747595430 0.00001
NM_019844.4(SLCO1B3):c.757C>T (p.Arg253Cys) rs767676951 0.00001
NM_006446.5(SLCO1B1):c.*134A>T rs567678480
NM_006446.5(SLCO1B1):c.*145T>C rs1219783036
NM_006446.5(SLCO1B1):c.*427G>T rs886049147
NM_006446.5(SLCO1B1):c.-62+10A>G rs1441556482
NM_006446.5(SLCO1B1):c.1459G>T (p.Ala487Ser) rs886049145
NM_006446.5(SLCO1B1):c.1498-8C>T rs78474337
NM_006446.5(SLCO1B1):c.1729A>C (p.Met577Leu) rs371102023
NM_006446.5(SLCO1B1):c.311T>A (p.Met104Lys) rs1258500103
NM_006446.5(SLCO1B1):c.359+23dup rs4149095
NM_006446.5(SLCO1B1):c.360-15G>A rs886049144
NM_006446.5(SLCO1B1):c.786C>T (p.Phe262=) rs780914697
NM_006446.5(SLCO1B1):c.797G>T (p.Gly266Val) rs779807623
NM_006446.5(SLCO1B1):c.84+1G>A rs571639279
NM_019844.4(SLCO1B3):c.*219G>A rs886049139
NM_019844.4(SLCO1B3):c.*339G>C rs191491660
NM_019844.4(SLCO1B3):c.*355dup rs397689574
NM_019844.4(SLCO1B3):c.*399A>G rs886049141
NM_019844.4(SLCO1B3):c.*437A>G rs1866507319
NM_019844.4(SLCO1B3):c.*560T>C rs886049142
NM_019844.4(SLCO1B3):c.*627G>A rs79132805
NM_019844.4(SLCO1B3):c.-128del rs373018826
NM_019844.4(SLCO1B3):c.-147A>T rs1374502602
NM_019844.4(SLCO1B3):c.1129T>C (p.Leu377=) rs1474803384
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) rs146940490
NM_019844.4(SLCO1B3):c.1432G>C (p.Gly478Arg) rs886049137
NM_019844.4(SLCO1B3):c.147A>C (p.Lys49Asn) rs1865106191
NM_019844.4(SLCO1B3):c.1659C>T (p.Thr553=) rs1865736744
NM_019844.4(SLCO1B3):c.1748-12C>T rs886049138
NM_019844.4(SLCO1B3):c.1992A>C (p.Lys664Asn) rs758003128
NM_019844.4(SLCO1B3):c.203dup (p.Leu68fs) rs748195197
NM_019844.4(SLCO1B3):c.291del (p.Ile97fs) rs1565591652
NM_019844.4(SLCO1B3):c.360-3_362del rs772663115
NM_019844.4(SLCO1B3):c.432_435del (p.Asn145fs) rs764867994
NM_019844.4(SLCO1B3):c.518A>G (p.Tyr173Cys) rs886049134
NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) rs746941097
NM_019844.4(SLCO1B3):c.628+4A>T rs886049135
NM_019844.4(SLCO1B3):c.731C>G (p.Thr244Ser) rs1361523872
NM_019844.4(SLCO1B3):c.758G>A (p.Arg253His) rs745538500
NM_019844.4(SLCO1B3):c.803T>G (p.Phe268Cys) rs1449152778
NM_019844.4(SLCO1B3):c.977del (p.Phe326fs) rs769005039

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