ClinVar Miner

List of variants in gene TAP2 reported as likely benign for MHC class I deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr) rs111303994 0.01475
NM_001290043.2(TAP2):c.770C>T (p.Thr257Ile) rs138586326 0.00247
NM_001290043.2(TAP2):c.1752C>T (p.His584=) rs144543918 0.00103
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
NM_001290043.2(TAP2):c.970G>A (p.Ala324Thr) rs143726288 0.00076
NM_001290043.2(TAP2):c.270C>T (p.Pro90=) rs779036241 0.00012
NM_001290043.2(TAP2):c.1272+7G>A rs547573518 0.00011
NM_001290043.2(TAP2):c.945+7G>A rs779147813 0.00010
NM_001290043.2(TAP2):c.1470G>A (p.Thr490=) rs140488350 0.00009
NM_001290043.2(TAP2):c.1932C>T (p.Ala644=) rs200318579 0.00009
NM_001290043.2(TAP2):c.1984A>C (p.Arg662=) rs1376176135 0.00008
NM_001290043.2(TAP2):c.1200G>A (p.Gln400=) rs760531770 0.00007
NM_001290043.2(TAP2):c.*9G>A rs770581305 0.00006
NM_001290043.2(TAP2):c.1461+20A>G rs755548838 0.00006
NM_001290043.2(TAP2):c.1875G>A (p.Pro625=) rs554667350 0.00006
NM_001290043.2(TAP2):c.1884C>G (p.Leu628=) rs749944686 0.00006
NM_001290043.2(TAP2):c.375G>C (p.Gln125His) rs562176186 0.00006
NM_001290043.2(TAP2):c.771C>T (p.Thr257=) rs372434311 0.00006
NM_001290043.2(TAP2):c.1119C>T (p.Arg373=) rs373723421 0.00005
NM_001290043.2(TAP2):c.1500G>A (p.Ala500=) rs752742116 0.00005
NM_001290043.2(TAP2):c.1740C>G (p.Ala580=) rs199892841 0.00005
NM_001290043.2(TAP2):c.471C>T (p.Phe157=) rs765646791 0.00005
NM_001290043.2(TAP2):c.1041C>T (p.Ala347=) rs760274197 0.00004
NM_001290043.2(TAP2):c.249C>A (p.Val83=) rs771431299 0.00004
NM_001290043.2(TAP2):c.1461+17G>A rs747635324 0.00003
NM_001290043.2(TAP2):c.1795+8C>T rs374476450 0.00003
NM_001290043.2(TAP2):c.235C>T (p.Leu79=) rs749689805 0.00003
NM_001290043.2(TAP2):c.1147C>T (p.Leu383=) rs761704456 0.00002
NM_001290043.2(TAP2):c.1503G>C (p.Leu501=) rs760602887 0.00002
NM_001290043.2(TAP2):c.2004C>T (p.Arg668=) rs761138014 0.00002
NM_001290043.2(TAP2):c.355C>T (p.Leu119=) rs986963647 0.00002
NM_001290043.2(TAP2):c.1005C>T (p.Ala335=) rs779246483 0.00001
NM_001290043.2(TAP2):c.1212C>T (p.Leu404=) rs1047109850 0.00001
NM_001290043.2(TAP2):c.1221C>T (p.Gly407=) rs763318837 0.00001
NM_001290043.2(TAP2):c.1278G>A (p.Leu426=) rs754216065 0.00001
NM_001290043.2(TAP2):c.1390C>T (p.Leu464=) rs755494717 0.00001
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_001290043.2(TAP2):c.1416C>T (p.Asp472=) rs774370150 0.00001
NM_001290043.2(TAP2):c.144G>A (p.Gly48=) rs556618855 0.00001
NM_001290043.2(TAP2):c.1497G>A (p.Thr499=) rs1236881546 0.00001
NM_001290043.2(TAP2):c.1512C>T (p.Pro504=) rs750188023 0.00001
NM_001290043.2(TAP2):c.1587G>A (p.Leu529=) rs752786876 0.00001
NM_001290043.2(TAP2):c.1734G>A (p.Ala578=) rs543399235 0.00001
NM_001290043.2(TAP2):c.1827G>A (p.Ala609=) rs764437170 0.00001
NM_001290043.2(TAP2):c.1933-11C>T rs1476896537 0.00001
NM_001290043.2(TAP2):c.1947T>C (p.Asn649=) rs942085634 0.00001
NM_001290043.2(TAP2):c.2046G>A (p.Lys682=) rs1212296156 0.00001
NM_001290043.2(TAP2):c.273A>C (p.Pro91=) rs754928206 0.00001
NM_001290043.2(TAP2):c.432C>T (p.Leu144=) rs536822325 0.00001
NM_001290043.2(TAP2):c.493+19T>C rs773430770 0.00001
NM_001290043.2(TAP2):c.740-20A>G rs748888824 0.00001
NM_001290043.2(TAP2):c.867G>A (p.Ser289=) rs775338272 0.00001
NM_001290043.2(TAP2):c.984G>A (p.Ala328=) rs779202764 0.00001
NM_001290043.2(TAP2):c.996G>T (p.Val332=) rs780131528 0.00001
NM_001290043.2(TAP2):c.1014G>A (p.Gly338=)
NM_001290043.2(TAP2):c.1083A>G (p.Gln361=) rs1369405533
NM_001290043.2(TAP2):c.1143+13A>T
NM_001290043.2(TAP2):c.1143+15T>C
NM_001290043.2(TAP2):c.1143+15T>G
NM_001290043.2(TAP2):c.1143+16G>T
NM_001290043.2(TAP2):c.1143+17G>A
NM_001290043.2(TAP2):c.1144-17T>C
NM_001290043.2(TAP2):c.1144-6T>C rs9461814
NM_001290043.2(TAP2):c.1174C>T (p.Leu392=)
NM_001290043.2(TAP2):c.1179C>T (p.Ser393=) rs1769141226
NM_001290043.2(TAP2):c.1185G>C (p.Gly395=) rs2127358619
NM_001290043.2(TAP2):c.123G>A (p.Glu41=)
NM_001290043.2(TAP2):c.1254C>T (p.Ser418=)
NM_001290043.2(TAP2):c.1272+13C>G
NM_001290043.2(TAP2):c.1272+13C>T
NM_001290043.2(TAP2):c.1272+17G>A
NM_001290043.2(TAP2):c.1290T>C (p.Tyr430=) rs2127356009
NM_001290043.2(TAP2):c.1374G>C (p.Thr458=)
NM_001290043.2(TAP2):c.1398G>C (p.Gly466=) rs137982419
NM_001290043.2(TAP2):c.1434C>T (p.Pro478=) rs2127355585
NM_001290043.2(TAP2):c.1461+19A>T
NM_001290043.2(TAP2):c.1462-12C>G
NM_001290043.2(TAP2):c.1479A>G (p.Leu493=)
NM_001290043.2(TAP2):c.1569A>C (p.Thr523=)
NM_001290043.2(TAP2):c.1572G>C (p.Gly524=)
NM_001290043.2(TAP2):c.1575A>C (p.Gly525=)
NM_001290043.2(TAP2):c.1635+20A>T
NM_001290043.2(TAP2):c.1636-19C>T
NM_001290043.2(TAP2):c.1650G>T (p.Gly550=)
NM_001290043.2(TAP2):c.1671C>T (p.Ser557=)
NM_001290043.2(TAP2):c.1725G>A (p.Lys575=)
NM_001290043.2(TAP2):c.1749C>T (p.Ala583=) rs2127353933
NM_001290043.2(TAP2):c.1767C>A (p.Ile589=) rs773755340
NM_001290043.2(TAP2):c.1884C>T (p.Leu628=)
NM_001290043.2(TAP2):c.1908C>T (p.Ala636=) rs1582564816
NM_001290043.2(TAP2):c.1923C>T (p.Cys641=)
NM_001290043.2(TAP2):c.192A>G (p.Thr64=)
NM_001290043.2(TAP2):c.1962C>T (p.Arg654=)
NM_001290043.2(TAP2):c.2061G>A (p.Ter687=) rs1445727553
NM_001290043.2(TAP2):c.267T>A (p.Ala89=) rs545542514
NM_001290043.2(TAP2):c.309G>T (p.Leu103=)
NM_001290043.2(TAP2):c.315G>A (p.Gly105=) rs750160800
NM_001290043.2(TAP2):c.411G>A (p.Leu137=) rs1769521534
NM_001290043.2(TAP2):c.441G>A (p.Pro147=)
NM_001290043.2(TAP2):c.459T>A (p.Val153=)
NM_001290043.2(TAP2):c.486T>C (p.Ala162=)
NM_001290043.2(TAP2):c.493+14G>A
NM_001290043.2(TAP2):c.493+18G>A
NM_001290043.2(TAP2):c.51G>A (p.Ala17=) rs755209680
NM_001290043.2(TAP2):c.740-17T>G
NM_001290043.2(TAP2):c.740-18C>T
NM_001290043.2(TAP2):c.740-5C>A rs2127363506
NM_001290043.2(TAP2):c.765G>A (p.Ser255=)
NM_001290043.2(TAP2):c.786C>T (p.Asn262=)
NM_001290043.2(TAP2):c.814T>C (p.Leu272=)
NM_001290043.2(TAP2):c.84G>A (p.Gly28=)
NM_001290043.2(TAP2):c.861C>T (p.Ser287=)
NM_001290043.2(TAP2):c.909A>C (p.Thr303=)
NM_001290043.2(TAP2):c.936C>G (p.Thr312=)
NM_001290043.2(TAP2):c.945+7G>T rs779147813
NM_001290043.2(TAP2):c.946-12C>T
NM_001290043.2(TAP2):c.983C>G (p.Ala328Gly) rs148663600

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