ClinVar Miner

List of variants in gene TAP1 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000593.6(TAP1):c.997A>G (p.Ile333Val) rs1057141 0.20047
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly) rs1135216 0.17502
NM_000593.6(TAP1):c.1051-3C>T rs56366814 0.00282
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu) rs2228106 0.00282
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_000593.6(TAP1):c.392T>C (p.Leu131Pro) rs142907576 0.00128
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_000593.6(TAP1):c.551C>T (p.Thr184Met) rs143842509 0.00066
NM_000593.6(TAP1):c.328C>G (p.Leu110Val) rs2228108 0.00065
NM_000593.6(TAP1):c.484G>A (p.Val162Met) rs147255912 0.00065
NC_000006.12:g.32853805A>C rs148176741 0.00061
NM_000593.6(TAP1):c.159A>G (p.Pro53=) rs144037908 0.00040
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_000593.6(TAP1):c.1593C>T (p.Gly531=) rs144951468 0.00035
NM_000593.6(TAP1):c.1903+18C>G rs374080419 0.00024
NM_000593.6(TAP1):c.819G>A (p.Thr273=) rs555493390 0.00024
NM_000593.6(TAP1):c.1050+15T>C rs372875467 0.00019
NM_000593.6(TAP1):c.447C>T (p.Pro149=) rs757944776 0.00016
NM_000593.6(TAP1):c.1051-11T>C rs371544893 0.00014
NC_000006.12:g.32853751C>G rs760815768 0.00013
NM_000593.6(TAP1):c.1377+16C>T rs368263473 0.00013
NM_000593.6(TAP1):c.437C>T (p.Ala146Val) rs144830209 0.00010
NM_000593.6(TAP1):c.690C>T (p.Leu230=) rs188939246 0.00010
NM_000593.6(TAP1):c.1904-14C>T rs550493302 0.00009
NM_000593.6(TAP1):c.1561C>T (p.Leu521=) rs372643992 0.00007
NM_000593.6(TAP1):c.552G>C (p.Thr184=) rs138368358 0.00007
NC_000006.12:g.32853718G>A rs866695760 0.00006
NM_000593.6(TAP1):c.1155C>T (p.Gly385=) rs139907578 0.00005
NM_000593.6(TAP1):c.1398C>A (p.Pro466=) rs374008463 0.00004
NM_000593.6(TAP1):c.1770A>G (p.Val590=) rs571926211 0.00004
NM_000593.6(TAP1):c.1956G>A (p.Ala652=) rs369074610 0.00004
NM_000593.6(TAP1):c.1962C>T (p.Ala654=) rs749236282 0.00004
NM_000593.6(TAP1):c.1305C>T (p.Thr435=) rs754417390 0.00003
NC_000006.12:g.32853730A>G rs1329303922 0.00002
NM_000593.6(TAP1):c.1567-17G>A rs1158574362 0.00002
NM_000593.6(TAP1):c.186G>A (p.Leu62=) rs767326847 0.00002
NM_000593.6(TAP1):c.1995C>T (p.Ile665=) rs746615939 0.00002
NM_000593.6(TAP1):c.1377+13C>T rs747841675 0.00001
NM_000593.6(TAP1):c.1378-4C>G rs746948561 0.00001
NM_000593.6(TAP1):c.1518A>G (p.Gln506=) rs577064548 0.00001
NM_000593.6(TAP1):c.1567-13C>G rs745320898 0.00001
NM_000593.6(TAP1):c.1602G>A (p.Thr534=) rs530026098 0.00001
NM_000593.6(TAP1):c.1836C>T (p.Ile612=) rs1770512950 0.00001
NM_000593.6(TAP1):c.363C>A (p.Ala121=) rs1275960530 0.00001
NM_000593.6(TAP1):c.426C>T (p.Val142=) rs755094921 0.00001
NM_000593.6(TAP1):c.599-19C>T rs1473925143 0.00001
NM_000593.6(TAP1):c.810C>T (p.Arg270=) rs1401762778 0.00001
NM_000593.6(TAP1):c.845-12C>T rs1207093185 0.00001
NM_000593.6(TAP1):c.87T>C (p.Leu29=) rs766171114 0.00001
NM_000593.6(TAP1):c.885G>C (p.Leu295=) rs762913065 0.00001
NC_000006.12:g.32853736G>A
NC_000006.12:g.32853760G>A
NC_000006.12:g.32853766C>T
NC_000006.12:g.32853787T>C
NC_000006.12:g.32853787T>G
NC_000006.12:g.32853793T>C
NC_000006.12:g.32853811A>G
NM_000593.6(TAP1):c.-16C>T
NM_000593.6(TAP1):c.1003C>T (p.Leu335=)
NM_000593.6(TAP1):c.1021C>T (p.Leu341=) rs765013700
NM_000593.6(TAP1):c.1051-7T>C rs2127390443
NM_000593.6(TAP1):c.1054C>T (p.Leu352=) rs2127390421
NM_000593.6(TAP1):c.1092C>T (p.Ser364=)
NM_000593.6(TAP1):c.1101C>A (p.Ala367=) rs2127390366
NM_000593.6(TAP1):c.1146C>T (p.Asn382=)
NM_000593.6(TAP1):c.1167G>A (p.Lys389=)
NM_000593.6(TAP1):c.1200C>A (p.Leu400=)
NM_000593.6(TAP1):c.1248+10T>G
NM_000593.6(TAP1):c.1248+9C>A
NM_000593.6(TAP1):c.1249-5T>G rs2127388921
NM_000593.6(TAP1):c.1278C>T (p.Ile426=)
NM_000593.6(TAP1):c.1311G>T (p.Gly437=)
NM_000593.6(TAP1):c.1365C>T (p.Thr455=)
NM_000593.6(TAP1):c.1374G>T (p.Val458=)
NM_000593.6(TAP1):c.1377+20A>G
NM_000593.6(TAP1):c.1378-15C>A rs375798418
NM_000593.6(TAP1):c.1378-15C>T
NM_000593.6(TAP1):c.1378-4C>T rs746948561
NM_000593.6(TAP1):c.1386C>T (p.Leu462=)
NM_000593.6(TAP1):c.1467A>G (p.Pro489=) rs2127388532
NM_000593.6(TAP1):c.1476T>C (p.Gly492=)
NM_000593.6(TAP1):c.1488C>T (p.Pro496=)
NM_000593.6(TAP1):c.1503C>T (p.Gly501=)
NM_000593.6(TAP1):c.150C>T (p.Thr50=)
NM_000593.6(TAP1):c.1566+14C>G rs1388024069
NM_000593.6(TAP1):c.1581C>T (p.Thr527=)
NM_000593.6(TAP1):c.1593C>G (p.Gly531=) rs144951468
NM_000593.6(TAP1):c.15G>A (p.Arg5=)
NM_000593.6(TAP1):c.160C>T (p.Leu54=)
NM_000593.6(TAP1):c.162G>T (p.Leu54=)
NM_000593.6(TAP1):c.1662G>A (p.Leu554=)
NM_000593.6(TAP1):c.1662G>T (p.Leu554=) rs2127387635
NM_000593.6(TAP1):c.1665C>T (p.Tyr555=)
NM_000593.6(TAP1):c.1674C>T (p.Thr558=) rs377621191
NM_000593.6(TAP1):c.1689G>T (p.Leu563=) rs2127387561
NM_000593.6(TAP1):c.1710C>T (p.Pro570=) rs1770540799
NM_000593.6(TAP1):c.1740+8dup
NM_000593.6(TAP1):c.1741-4T>G
NM_000593.6(TAP1):c.1746T>C (p.Ala582=) rs2127387213
NM_000593.6(TAP1):c.1800C>T (p.Ala600=)
NM_000593.6(TAP1):c.1812C>T (p.Thr604=) rs1582629223
NM_000593.6(TAP1):c.1903+12A>G
NM_000593.6(TAP1):c.1903+19del
NM_000593.6(TAP1):c.1911C>T (p.Asp637=)
NM_000593.6(TAP1):c.1938T>C (p.Gly646=)
NM_000593.6(TAP1):c.1968A>T (p.Ala656=) rs745731367
NM_000593.6(TAP1):c.2040+17C>T rs2127386308
NM_000593.6(TAP1):c.291G>A (p.Lys97=)
NM_000593.6(TAP1):c.294A>G (p.Pro98=)
NM_000593.6(TAP1):c.30C>T (p.Arg10=)
NM_000593.6(TAP1):c.333C>T (p.Ala111=)
NM_000593.6(TAP1):c.354A>C (p.Ser118=)
NM_000593.6(TAP1):c.354A>T (p.Ser118=)
NM_000593.6(TAP1):c.369G>A (p.Gly123=) rs760088609
NM_000593.6(TAP1):c.384C>A (p.Thr128=) rs1430637258
NM_000593.6(TAP1):c.387G>A (p.Arg129=)
NM_000593.6(TAP1):c.408C>T (p.His136=) rs1472631167
NM_000593.6(TAP1):c.447C>G (p.Pro149=)
NM_000593.6(TAP1):c.457C>T (p.Leu153=) rs960438813
NM_000593.6(TAP1):c.513C>T (p.Asn171=)
NM_000593.6(TAP1):c.558C>T (p.Arg186=)
NM_000593.6(TAP1):c.564G>T (p.Ser188=)
NM_000593.6(TAP1):c.588C>T (p.Leu196=)
NM_000593.6(TAP1):c.598+12G>T rs2127393374
NM_000593.6(TAP1):c.599-11T>C
NM_000593.6(TAP1):c.599-15C>T
NM_000593.6(TAP1):c.599-17C>T
NM_000593.6(TAP1):c.609C>T (p.Ala203=)
NM_000593.6(TAP1):c.615A>G (p.Pro205=) rs1770850860
NM_000593.6(TAP1):c.639C>T (p.Asp213=) rs2127392786
NM_000593.6(TAP1):c.646C>T (p.Leu216=)
NM_000593.6(TAP1):c.657C>T (p.Gly219=) rs1770847755
NM_000593.6(TAP1):c.663C>G (p.Ala221=) rs2127392755
NM_000593.6(TAP1):c.713+18G>T
NM_000593.6(TAP1):c.714-11G>T rs1770832505
NM_000593.6(TAP1):c.714-14C>T
NM_000593.6(TAP1):c.714-9del rs2127392508
NM_000593.6(TAP1):c.717A>G (p.Ala239=) rs2127392481
NM_000593.6(TAP1):c.721C>T (p.Leu241=)
NM_000593.6(TAP1):c.738C>T (p.Asp246=)
NM_000593.6(TAP1):c.82C>T (p.Leu28=)
NM_000593.6(TAP1):c.844+9T>C
NM_000593.6(TAP1):c.861G>A (p.Arg287=) rs2127391156
NM_000593.6(TAP1):c.876G>A (p.Thr292=)
NM_000593.6(TAP1):c.879C>T (p.Ser293=)
NM_000593.6(TAP1):c.90C>T (p.Leu30=)
NM_000593.6(TAP1):c.93C>T (p.Ala31=)
NM_000593.6(TAP1):c.942A>G (p.Leu314=)
NM_000593.6(TAP1):c.981C>T (p.Leu327=)
NM_000593.6(TAP1):c.990C>T (p.Val330=) rs1468233071
NM_000593.6(TAP1):c.993C>G (p.Thr331=)

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