ClinVar Miner

List of variants in gene CIITA reported as benign for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000246.3(CIITA):c.*1126T>G
NM_000246.3(CIITA):c.*158G>A rs45451491
NM_000246.3(CIITA):c.*23-7G>C rs4780336
NM_000246.3(CIITA):c.*644C>G rs139802594
NM_000246.3(CIITA):c.*690C>T rs11074940
NM_000246.3(CIITA):c.*735G>A rs34538398
NM_000246.3(CIITA):c.*910T>C rs1139564
NM_000246.3(CIITA):c.*911G>A rs45466393
NM_000246.3(CIITA):c.-46G>A rs115659359
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.133C>G (p.Leu45Val) rs2229317
NM_000246.3(CIITA):c.1429C>A (p.Leu477Ile) rs150205851
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1491C>T (p.Ile497=) rs138250353
NM_000246.3(CIITA):c.1499G>C (p.Gly500Ala) rs4774
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1740C>G (p.Arg580=) rs78666334
NM_000246.3(CIITA):c.1791C>G (p.Leu597=) rs201657235
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) rs2229319
NM_000246.3(CIITA):c.200-10T>C rs45474796
NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) rs78108426
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.225C>T (p.Cys75=) rs2229318
NM_000246.3(CIITA):c.2286C>A (p.Ile762=) rs35976871
NM_000246.3(CIITA):c.2331G>T (p.Ser777=) rs34685848
NM_000246.3(CIITA):c.2342C>T (p.Ser781Leu) rs13330686
NM_000246.3(CIITA):c.2345T>C (p.Val782Ala) rs13336804
NM_000246.3(CIITA):c.2394G>A (p.Pro798=) rs2229320
NM_000246.3(CIITA):c.2421G>T (p.Leu807=) rs34654419
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2472C>T (p.His824=) rs45621432
NM_000246.3(CIITA):c.2565G>A (p.Ala855=) rs2229321
NM_000246.3(CIITA):c.2676G>A (p.Thr892=) rs2228238
NM_000246.3(CIITA):c.2682G>A (p.Ala894=) rs148091568
NM_000246.3(CIITA):c.2699A>G (p.Gln900Arg) rs7197779
NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) rs140103491
NM_000246.3(CIITA):c.3108C>T (p.Ala1036=) rs150276623
NM_000246.3(CIITA):c.3150-6C>T rs192219239
NM_000246.3(CIITA):c.3171C>T (p.Cys1057=) rs2229322
NM_000246.3(CIITA):c.3233+8_3233+9del rs774399663
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.358+11G>A
NM_000246.3(CIITA):c.370C>A (p.Pro124Thr) rs77169590
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.3(CIITA):c.520= (p.Gly174=) rs8046121
NM_000246.3(CIITA):c.520G>A (p.Gly174Arg) rs8046121
NM_000246.3(CIITA):c.691C>T (p.Pro231Ser) rs147472574
NM_000246.3(CIITA):c.772+8C>T rs557455283

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