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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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