ClinVar Miner

List of variants reported as benign for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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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
NM_000449.3(RFX5):c.*1084A>C rs116826799
NM_000449.3(RFX5):c.*244A>G rs2233857
NM_000449.3(RFX5):c.*283A>G rs1752387
NM_000449.3(RFX5):c.*888T>C rs7552906
NM_000449.3(RFX5):c.1226C>G (p.Pro409Arg) rs2233854
NM_000449.3(RFX5):c.1379G>A (p.Ser460Asn) rs142053610
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.1569G>A (p.Glu523=) rs137968641
NM_000449.3(RFX5):c.222T>G (p.Thr74=) rs145198853
NM_000449.3(RFX5):c.233+4G>C rs2233846
NM_000449.3(RFX5):c.477T>C (p.Tyr159=) rs144353639
NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) rs2233851
NM_000449.3(RFX5):c.64G>A (p.Ala22Thr) rs2233843
NM_000449.3(RFX5):c.753T>C (p.Leu251=) rs1752386
NM_000449.3(RFX5):c.900C>T (p.Leu300=) rs2233853
NM_000449.3(RFX5):c.982C>A (p.Arg328=) rs78854744
NM_000449.3(RFX5):c.984G>A (p.Arg328=) rs374283593
NM_000538.3(RFXAP):c.*1092A>G rs17054519
NM_000538.3(RFXAP):c.*1253G>A rs10976
NM_000538.3(RFXAP):c.*33del rs398022347
NM_000538.3(RFXAP):c.*472C>T rs150569371
NM_000538.3(RFXAP):c.*550T>C rs9547679
NM_000538.3(RFXAP):c.*55A>G rs7321405
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.410T>C (p.Met137Thr) rs193240312
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000538.3(RFXAP):c.756A>G (p.Gln252=) rs141918438
NM_000538.4(RFXAP):c.*719C>T
NM_003721.4(RFXANK):c.*12C>T rs10413280
NM_003721.4(RFXANK):c.337+4C>T rs187331767
NM_003721.4(RFXANK):c.712+4A>G rs73922830
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972

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