ClinVar Miner

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

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter) rs79106593 0.00004
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_000246.4(CIITA):c.1518del (p.Gln507fs) rs2544477641 0.00001
NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter) rs2544492635 0.00001
NM_000246.4(CIITA):c.376G>T (p.Glu126Ter) rs1209026051 0.00001
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter) rs567218474 0.00001
NM_001025603.2(RFX5):c.103C>T (p.Arg35Ter) rs1363575527 0.00001
NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter) rs1426299431 0.00001
NM_001025603.2(RFX5):c.1578_1594dup (p.Gln532fs) rs757464167 0.00001
NM_001025603.2(RFX5):c.172del (p.Asp58fs) rs2529040595 0.00001
NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter) rs1489967497 0.00001
NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter) rs1233130743 0.00001
NM_001025603.2(RFX5):c.880C>T (p.Arg294Ter) rs1196551559 0.00001
NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter) rs368167684 0.00001
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter) rs779699696 0.00001
NM_003721.4(RFXANK):c.383del (p.Leu128fs) rs770387882 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NC_000013.10:g.(?_37393495)_(37583436_?)del
NC_000016.10:g.(?_10877311)_(10923323_?)del
NC_000016.9:g.(?_10637407)_(10971259_?)del
NC_000016.9:g.(?_10971168)_(10971259_?)del
NC_000016.9:g.(?_10971188)_(11650586_?)del
NC_000016.9:g.(?_11000336)_(11017160_?)del
NC_000019.9:g.(?_19304756)_(19304962_?)del
NM_000246.4(CIITA):c.1012del (p.Val338fs) rs2544468139
NM_000246.4(CIITA):c.1049del (p.Gly350fs) rs1567415157
NM_000246.4(CIITA):c.1054_1058del (p.Glu352fs) rs2544468802
NM_000246.4(CIITA):c.1099C>T (p.Gln367Ter) rs2544469716
NM_000246.4(CIITA):c.1162del (p.Ala388fs)
NM_000246.4(CIITA):c.1190del (p.Leu397fs) rs2039181631
NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter) rs2144701260
NM_000246.4(CIITA):c.1383dup (p.Ala462fs) rs2039198631
NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter) rs1306793050
NM_000246.4(CIITA):c.1399del (p.Asp467fs) rs2544475284
NM_000246.4(CIITA):c.1423C>T (p.Gln475Ter) rs2544475779
NM_000246.4(CIITA):c.1502_1511del (p.Phe501fs) rs2144710452
NM_000246.4(CIITA):c.1536_1537insTTGCGGTC (p.Ser513fs) rs2144711765
NM_000246.4(CIITA):c.1566del (p.Cys523fs) rs2544478713
NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter) rs751733167
NM_000246.4(CIITA):c.1717C>T (p.Gln573Ter) rs2144718631
NM_000246.4(CIITA):c.1847del (p.Ala616fs) rs2544485110
NM_000246.4(CIITA):c.1863dup (p.Glu622fs) rs2144723164
NM_000246.4(CIITA):c.1920_1921insGA (p.Tyr641fs) rs2544486450
NM_000246.4(CIITA):c.1922_1923del (p.Tyr641fs) rs2544486476
NM_000246.4(CIITA):c.1962del (p.Ala656fs) rs778982759
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter) rs2144728494
NM_000246.4(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter) rs863223293
NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter) rs2544489480
NM_000246.4(CIITA):c.2103del (p.Ala702fs) rs2544490239
NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter) rs139227684
NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter) rs2544491788
NM_000246.4(CIITA):c.2290del (p.Gln764fs) rs1064794659
NM_000246.4(CIITA):c.2406_2437del (p.Ala803fs) rs2544495876
NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter) rs771994666
NM_000246.4(CIITA):c.2444del (p.Glu815fs) rs2544496939
NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter) rs2544497246
NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter) rs2144743127
NM_000246.4(CIITA):c.2490del (p.Gly831fs) rs2144743381
NM_000246.4(CIITA):c.2526del (p.Pro843fs) rs2144745003
NM_000246.4(CIITA):c.2563del (p.Ala855fs) rs2544498925
NM_000246.4(CIITA):c.2567del (p.Gly856fs) rs2544499041
NM_000246.4(CIITA):c.2591_2595del (p.Arg864fs) rs2544499425
NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter) rs2144769768
NM_000246.4(CIITA):c.2775_2777delinsTT (p.Lys926fs) rs2544514798
NM_000246.4(CIITA):c.2828_2829insTG (p.Ser944fs) rs2144800871
NM_000246.4(CIITA):c.3098_3116del (p.Tyr1033fs) rs2040082093
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter) rs2145173097
NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter) rs367628451
NM_000246.4(CIITA):c.587_597del (p.Ala196fs) rs1371331693
NM_000246.4(CIITA):c.630_633del (p.Met210fs) rs2038865240
NM_000246.4(CIITA):c.632del (p.Pro211fs) rs2144580551
NM_000246.4(CIITA):c.682C>T (p.Gln228Ter) rs2144582937
NM_000246.4(CIITA):c.802_803dup (p.Pro269fs) rs2144614170
NM_000538.4(RFXAP):c.117del (p.Ala40fs)
NM_000538.4(RFXAP):c.188del (p.Gly63fs) rs1388967331
NM_000538.4(RFXAP):c.203dup (p.Lys69fs) rs1249595284
NM_000538.4(RFXAP):c.359del (p.Gly120fs) rs1224857205
NM_000538.4(RFXAP):c.368del (p.Ser123fs) rs775250354
NM_000538.4(RFXAP):c.429C>G (p.Tyr143Ter) rs2057955936
NM_001025603.2(RFX5):c.1008_1014del (p.Pro337fs) rs2529020120
NM_001025603.2(RFX5):c.1016C>G (p.Ser339Ter) rs992795118
NM_001025603.2(RFX5):c.1034_1035del (p.Pro345fs) rs2529019649
NM_001025603.2(RFX5):c.1059del (p.Arg354fs) rs2529019322
NM_001025603.2(RFX5):c.1222C>T (p.Gln408Ter)
NM_001025603.2(RFX5):c.1374dup (p.Ala459fs) rs779214753
NM_001025603.2(RFX5):c.151-1G>T rs2102068023
NM_001025603.2(RFX5):c.273T>G (p.Tyr91Ter) rs1650858382
NM_001025603.2(RFX5):c.312dup (p.Asp105Ter) rs1571262081
NM_001025603.2(RFX5):c.367_368del (p.Leu124fs) rs1228361094
NM_001025603.2(RFX5):c.55_56dup (p.Gly20fs) rs758904746
NM_001025603.2(RFX5):c.56dup (p.Gly20fs) rs758904746
NM_001025603.2(RFX5):c.582del (p.Ala195fs) rs2529028222
NM_001025603.2(RFX5):c.602del (p.Val201fs) rs1557832711
NM_001025603.2(RFX5):c.609del (p.Ala204fs) rs1571260017
NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter) rs2529024443
NM_003721.4(RFXANK):c.271_271+1insCTGCC rs1568578781
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter) rs2146493181
NM_003721.4(RFXANK):c.599_600del (p.Gly200fs) rs2146496053
NM_003721.4(RFXANK):c.600del (p.Asn201fs) rs2146496053

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