ClinVar Miner

List of variants in gene TAP1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_000593.6(TAP1):c.809G>A (p.Arg270His) rs140245535 0.00061
NM_000593.6(TAP1):c.739G>A (p.Gly247Arg) rs59328013 0.00057
NM_000593.6(TAP1):c.1783C>G (p.Leu595Val) rs145691938 0.00052
NM_000593.6(TAP1):c.782A>C (p.Gln261Pro) rs143954070 0.00046
NC_000006.12:g.32853779G>A rs202053684 0.00029
NM_000593.6(TAP1):c.1115C>T (p.Ser372Leu) rs147332077 0.00029
NM_000593.6(TAP1):c.1594G>A (p.Glu532Lys) rs149812348 0.00025
NM_000593.6(TAP1):c.-59C>T rs554237124 0.00022
NM_000593.6(TAP1):c.746A>G (p.Tyr249Cys) rs143185338 0.00022
NM_000593.6(TAP1):c.11C>T (p.Ser4Phe) rs571573117 0.00019
NM_000593.6(TAP1):c.1329C>A (p.Asn443Lys) rs138099433 0.00019
NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln) rs373810087 0.00018
NC_000006.12:g.32853800G>A rs777274470 0.00017
NC_000006.12:g.32853762C>A rs753996695 0.00014
NM_000593.6(TAP1):c.19C>T (p.Pro7Ser) rs375389015 0.00014
NM_000593.6(TAP1):c.4G>A (p.Ala2Thr) rs767256206 0.00014
NM_000593.6(TAP1):c.629G>A (p.Arg210His) rs550037204 0.00013
NC_000006.12:g.32853720G>C rs770558961 0.00011
NM_000593.6(TAP1):c.2040+6G>A rs371984928 0.00011
NM_000593.6(TAP1):c.1070G>A (p.Arg357Gln) rs754828996 0.00009
NM_000593.6(TAP1):c.152C>T (p.Ala51Val) rs781699375 0.00009
NM_000593.6(TAP1):c.1723C>T (p.Arg575Cys) rs1168560265 0.00009
NM_000593.6(TAP1):c.881C>T (p.Thr294Ile) rs139346862 0.00009
NC_000006.12:g.32853783A>G rs765553023 0.00006
NM_000593.6(TAP1):c.1294C>A (p.Gln432Lys) rs142567918 0.00006
NM_000593.6(TAP1):c.1601C>T (p.Thr534Met) rs192572056 0.00006
NM_000593.6(TAP1):c.302C>T (p.Ala101Val) rs375437555 0.00006
NM_000593.6(TAP1):c.1354A>G (p.Met452Val) rs768766706 0.00005
NM_000593.6(TAP1):c.704C>G (p.Thr235Ser) rs147066418 0.00005
NM_000593.6(TAP1):c.175G>A (p.Ala59Thr) rs45538133 0.00004
NM_000593.6(TAP1):c.1957T>A (p.Leu653Met) rs772090667 0.00004
NM_000593.6(TAP1):c.284C>T (p.Ala95Val) rs1383030445 0.00004
NM_000593.6(TAP1):c.362C>T (p.Ala121Val) rs762677297 0.00004
NM_000593.6(TAP1):c.1203C>G (p.Asn401Lys) rs756823000 0.00003
NM_000593.6(TAP1):c.605T>G (p.Met202Arg) rs371791126 0.00003
NC_000006.12:g.32853744G>A rs773285146 0.00002
NM_000593.6(TAP1):c.1069C>T (p.Arg357Trp) rs777930194 0.00002
NM_000593.6(TAP1):c.1457C>T (p.Pro486Leu) rs1198262227 0.00002
NM_000593.6(TAP1):c.1519G>A (p.Asp507Asn) rs200865723 0.00002
NM_000593.6(TAP1):c.1772T>C (p.Phe591Ser) rs994202939 0.00002
NM_000593.6(TAP1):c.2017C>A (p.Leu673Met) rs752253839 0.00002
NM_000593.6(TAP1):c.410C>G (p.Pro137Arg) rs1010241068 0.00002
NM_000593.6(TAP1):c.479_481del (p.Leu160_Trp161delinsArg) rs757882774 0.00002
NM_000593.6(TAP1):c.740G>A (p.Gly247Glu) rs766402718 0.00002
NM_000593.6(TAP1):c.952G>A (p.Gly318Arg) rs781031767 0.00002
NC_000006.12:g.32853713C>A rs777221320 0.00001
NC_000006.12:g.32853755G>A rs1001073856 0.00001
NC_000006.12:g.32853758G>A rs868484039 0.00001
NM_000593.6(TAP1):c.-53G>C rs754168270 0.00001
NM_000593.6(TAP1):c.1036G>C (p.Gly346Arg) rs1383698129 0.00001
NM_000593.6(TAP1):c.1045T>C (p.Tyr349His) rs1373729853 0.00001
NM_000593.6(TAP1):c.1108G>T (p.Ala370Ser) rs767281649 0.00001
NM_000593.6(TAP1):c.1156G>A (p.Glu386Lys) rs777683307 0.00001
NM_000593.6(TAP1):c.115G>T (p.Ala39Ser) rs761472739 0.00001
NM_000593.6(TAP1):c.1248T>C (p.Ser416=) rs763494984 0.00001
NM_000593.6(TAP1):c.1507G>T (p.Val503Phe) rs751780479 0.00001
NM_000593.6(TAP1):c.1586G>A (p.Arg529His) rs778935373 0.00001
NM_000593.6(TAP1):c.1712A>G (p.Gln571Arg) rs1045053973 0.00001
NM_000593.6(TAP1):c.1782T>G (p.Ser594Arg) rs368026868 0.00001
NM_000593.6(TAP1):c.1937G>C (p.Gly646Ala) rs765527607 0.00001
NM_000593.6(TAP1):c.1955C>T (p.Ala652Val) rs1458831913 0.00001
NM_000593.6(TAP1):c.1964G>A (p.Arg655Gln) rs769612391 0.00001
NM_000593.6(TAP1):c.1984T>C (p.Cys662Arg) rs1263624622 0.00001
NM_000593.6(TAP1):c.214G>A (p.Ala72Thr) rs1266560493 0.00001
NM_000593.6(TAP1):c.324G>A (p.Pro108=) rs779064547 0.00001
NM_000593.6(TAP1):c.326G>C (p.Gly109Ala) rs1227126352 0.00001
NM_000593.6(TAP1):c.386G>A (p.Arg129Lys) rs777326504 0.00001
NM_000593.6(TAP1):c.406C>A (p.His136Asn) rs1183972057 0.00001
NM_000593.6(TAP1):c.610A>G (p.Ile204Val) rs1270686101 0.00001
NM_000593.6(TAP1):c.611T>G (p.Ile204Ser) rs1229649183 0.00001
NM_000593.6(TAP1):c.766G>A (p.Val256Met) rs531615408 0.00001
NM_000593.6(TAP1):c.844+4T>C rs1382854110 0.00001
NM_000593.6(TAP1):c.854T>C (p.Met285Thr) rs1396910813 0.00001
NM_000593.6(TAP1):c.935G>A (p.Arg312Gln) rs1226281975 0.00001
NM_000593.6(TAP1):c.977C>A (p.Ser326Tyr) rs779346609 0.00001
NC_000006.12:g.32853714C>A rs746658627
NC_000006.12:g.32853717C>G rs979626928
NC_000006.12:g.32853722C>G
NC_000006.12:g.32853744G>T
NC_000006.12:g.32853752G>A
NC_000006.12:g.32853783A>C rs765553023
NC_000006.12:g.32853785G>A rs1408055208
NM_000593.6(TAP1):c.-20G>C rs113585939
NM_000593.6(TAP1):c.1095G>C (p.Gln365His)
NM_000593.6(TAP1):c.109C>T (p.Arg37Trp) rs923642035
NM_000593.6(TAP1):c.1109C>A (p.Ala370Asp) rs2127679
NM_000593.6(TAP1):c.1120A>T (p.Met374Leu) rs779844691
NM_000593.6(TAP1):c.1136G>C (p.Ser379Thr)
NM_000593.6(TAP1):c.1147G>A (p.Glu383Lys)
NM_000593.6(TAP1):c.1186G>A (p.Glu396Lys)
NM_000593.6(TAP1):c.1207_1209del (p.Lys403del) rs2127390231
NM_000593.6(TAP1):c.1250T>C (p.Ile417Thr)
NM_000593.6(TAP1):c.1255G>A (p.Gly419Ser) rs2228110
NM_000593.6(TAP1):c.1319G>C (p.Ser440Thr)
NM_000593.6(TAP1):c.1377+5G>C rs746757726
NM_000593.6(TAP1):c.1414G>A (p.Val472Met)
NM_000593.6(TAP1):c.1451G>A (p.Arg484His) rs376553490
NM_000593.6(TAP1):c.1460G>A (p.Arg487His)
NM_000593.6(TAP1):c.1535A>G (p.Tyr512Cys)
NM_000593.6(TAP1):c.1543C>T (p.Arg515Cys)
NM_000593.6(TAP1):c.1556T>C (p.Leu519Ser) rs1770595507
NM_000593.6(TAP1):c.1566+5A>G
NM_000593.6(TAP1):c.1567G>A (p.Gly523Arg)
NM_000593.6(TAP1):c.1580C>T (p.Thr527Ile)
NM_000593.6(TAP1):c.1582C>G (p.Leu528Val) rs1179882145
NM_000593.6(TAP1):c.1597G>C (p.Val533Leu)
NM_000593.6(TAP1):c.1604C>T (p.Ala535Val)
NM_000593.6(TAP1):c.1616C>A (p.Pro539His) rs1770549743
NM_000593.6(TAP1):c.1676G>T (p.Gly559Val) rs2127387590
NM_000593.6(TAP1):c.1713A>G (p.Gln571=) rs758374418
NM_000593.6(TAP1):c.1722C>A (p.His574Gln) rs1770538961
NM_000593.6(TAP1):c.1727A>G (p.Tyr576Cys)
NM_000593.6(TAP1):c.1753G>A (p.Gly585Arg)
NM_000593.6(TAP1):c.1825A>G (p.Met609Val) rs765958228
NM_000593.6(TAP1):c.1838C>T (p.Thr613Ile) rs1770512743
NM_000593.6(TAP1):c.1852A>G (p.Lys618Glu) rs2127387053
NM_000593.6(TAP1):c.1903+4C>A rs781107294
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp) rs765527607
NM_000593.6(TAP1):c.1937G>T (p.Gly646Val) rs765527607
NM_000593.6(TAP1):c.1975C>T (p.Arg659Trp)
NM_000593.6(TAP1):c.1981C>T (p.Pro661Ser) rs2127386434
NM_000593.6(TAP1):c.217T>G (p.Cys73Gly)
NM_000593.6(TAP1):c.242G>T (p.Gly81Val)
NM_000593.6(TAP1):c.26C>A (p.Pro9His) rs2127394251
NM_000593.6(TAP1):c.283G>A (p.Ala95Thr) rs2127393913
NM_000593.6(TAP1):c.298G>T (p.Ala100Ser)
NM_000593.6(TAP1):c.310G>T (p.Gly104Cys) rs1482604401
NM_000593.6(TAP1):c.316_336dup (p.Ala106_Leu112dup) rs1311169361
NM_000593.6(TAP1):c.364C>G (p.Pro122Ala)
NM_000593.6(TAP1):c.394C>A (p.His132Asn) rs747398174
NM_000593.6(TAP1):c.471C>A (p.Leu157=) rs1770904472
NM_000593.6(TAP1):c.490G>A (p.Gly164Ser)
NM_000593.6(TAP1):c.508G>A (p.Gly170Arg)
NM_000593.6(TAP1):c.532G>A (p.Gly178Ser)
NM_000593.6(TAP1):c.544T>C (p.Ser182Pro)
NM_000593.6(TAP1):c.554G>C (p.Arg185Pro) rs770721925
NM_000593.6(TAP1):c.599G>A (p.Gly200Glu)
NM_000593.6(TAP1):c.612T>G (p.Ile204Met) rs2127392817
NM_000593.6(TAP1):c.664G>C (p.Asp222His)
NM_000593.6(TAP1):c.664G>T (p.Asp222Tyr)
NM_000593.6(TAP1):c.689T>C (p.Leu230Pro) rs1562373816
NM_000593.6(TAP1):c.710C>A (p.Ala237Asp) rs2127392692
NM_000593.6(TAP1):c.739G>T (p.Gly247Trp) rs59328013
NM_000593.6(TAP1):c.757A>G (p.Met253Val)
NM_000593.6(TAP1):c.774C>A (p.Ser258Arg) rs2127392345
NM_000593.6(TAP1):c.805C>G (p.Leu269Val) rs758910263
NM_000593.6(TAP1):c.808C>T (p.Arg270Cys) rs1257301662
NM_000593.6(TAP1):c.845-9A>G rs1770760116
NM_000593.6(TAP1):c.875C>T (p.Thr292Met)
NM_000593.6(TAP1):c.886A>C (p.Ser296Arg)
NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)
NM_000593.6(TAP1):c.89T>C (p.Leu30Pro)
NM_000593.6(TAP1):c.952G>T (p.Gly318Trp) rs781031767
NM_000593.6(TAP1):c.955A>C (p.Ile319Leu) rs748668600
NM_000593.6(TAP1):c.959T>A (p.Met320Lys) rs1019200817

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