ClinVar Miner

List of variants reported as benign for MHC class II deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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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.133C>G (p.Leu45Val) rs2229317
NM_000246.3(CIITA):c.1429C>A (p.Leu477Ile) rs150205851
NM_000246.3(CIITA):c.1499G>C (p.Gly500Ala) rs4774
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.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.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.3171C>T (p.Cys1057=) rs2229322
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.358+11G>A
NM_000246.3(CIITA):c.494C>G (p.Thr165Ser) rs34648899
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.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.233+4G>C rs2233846
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.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.410T>C (p.Met137Thr) rs193240312
NM_000538.4(RFXAP):c.*719C>T
NM_003721.4(RFXANK):c.*12C>T rs10413280

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