ClinVar Miner

List of variants reported as benign for MHC class II deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.520= (p.Gly174=) rs8046121 0.98494
NM_001025603.2(RFX5):c.753C>T (p.Leu251=) rs1752386 0.97700
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NC_000016.10:g.10877045G>A rs3087456 0.52763
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_003721.4(RFXANK):c.712+4A>G rs73922830 0.03058
NM_001025603.2(RFX5):c.753= (p.Leu251=) rs1752386 0.02300
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01686
NM_000246.4(CIITA):c.520G>A (p.Gly174Arg) rs8046121 0.01506
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) rs35976871 0.01268
NM_000538.4(RFXAP):c.410T>C (p.Met137Thr) rs193240312 0.01125
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00879
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00866
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498 0.00545
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_000246.4(CIITA):c.370C>A (p.Pro124Thr) rs77169590 0.00403
NM_003721.4(RFXANK):c.439-13C>T rs181297102 0.00339
NM_003721.4(RFXANK):c.337+4C>T rs187331767 0.00316
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) rs150276623 0.00215
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_000246.4(CIITA):c.296-20G>A rs75369652 0.00194
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972 0.00165
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000246.4(CIITA):c.773-18T>G rs75483410 0.00142
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.937+20G>A rs367634505 0.00114
NM_001025603.2(RFX5):c.222T>G (p.Thr74=) rs145198853 0.00112
NM_000246.4(CIITA):c.1491C>T (p.Ile497=) rs138250353 0.00091
NM_000246.4(CIITA):c.772+12G>A rs149554407 0.00088
NM_000538.4(RFXAP):c.756A>G (p.Gln252=) rs141918438 0.00087
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00031
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00021
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 0.00014
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys) rs201754085 0.00009
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.3063-12G>T rs559875711 0.00005
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2816+14C>T rs191941806
NM_000246.4(CIITA):c.3062+14G>A rs370557976
NM_000246.4(CIITA):c.3062+14G>T rs370557976
NM_000246.4(CIITA):c.3149+10del rs1417667688
NM_000246.4(CIITA):c.3149+14del
NM_000246.4(CIITA):c.3233+8_3233+9del rs774399663
NM_000246.4(CIITA):c.3318-7del
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251
NM_000246.4(CIITA):c.772+12del rs766452566
NM_000246.4(CIITA):c.773-8del
NM_001025603.2(RFX5):c.150+11T>C
NM_001025603.2(RFX5):c.757+20T>C
NM_003721.4(RFXANK):c.280A>G (p.Ile94Val)
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) rs115964828

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