ClinVar Miner

List of variants reported as likely benign for MHC class II deficiency by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.2322C>T (p.Leu774=) rs77072504 0.00056
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_000246.4(CIITA):c.1053C>T (p.Ala351=) rs147912483 0.00024
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000246.4(CIITA):c.567G>A (p.Ala189=) rs143123121 0.00018
NM_000246.4(CIITA):c.2408C>T (p.Ala803Val) rs577781366 0.00016
NM_000246.4(CIITA):c.471C>T (p.His157=) rs149990869 0.00016
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.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000246.4(CIITA):c.648G>A (p.Ser216=) rs374843831 0.00012
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.300A>G (p.Glu100=) rs578099843 0.00011
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.3015G>A (p.Ser1005=) rs764664500 0.00008
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met) rs200742204 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.2523G>T (p.Thr841=) rs780897648 0.00005
NM_000246.4(CIITA):c.1560G>A (p.Ala520=) rs781538086 0.00004
NM_000246.4(CIITA):c.1695G>A (p.Glu565=) rs766945455 0.00004
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala) rs142257962 0.00004
NM_000246.4(CIITA):c.2154G>A (p.Gly718=) rs201455192 0.00004
NM_000246.4(CIITA):c.1437G>A (p.Ala479=) rs779022639 0.00003
NM_000246.4(CIITA):c.1314T>C (p.Ala438=) rs749994940 0.00002
NM_000246.4(CIITA):c.165C>T (p.Asp55=) rs776624117 0.00002
NM_000246.4(CIITA):c.963C>T (p.Cys321=) rs781290238 0.00002
NM_000246.4(CIITA):c.141C>G (p.Leu47=) rs770687816 0.00001
NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser) rs200881105 0.00001
NM_000246.4(CIITA):c.2772C>T (p.Ser924=) rs1332434918 0.00001
NM_000246.4(CIITA):c.3033C>G (p.Phe1011Leu) rs576290462 0.00001
NM_000246.4(CIITA):c.1044G>C (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1416G>T (p.Leu472=) rs757999354
NM_000246.4(CIITA):c.1431C>G (p.Leu477=) rs756459269
NM_000246.4(CIITA):c.1557G>A (p.Pro519=) rs924677218
NM_000246.4(CIITA):c.1758G>A (p.Gly586=) rs1596552734
NM_000246.4(CIITA):c.1803G>C (p.Arg601=) rs758215284
NM_000246.4(CIITA):c.1878G>A (p.Glu626=) rs1310021692
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2322C>A (p.Leu774=) rs77072504
NM_000246.4(CIITA):c.3123G>T (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr) rs116253192
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu) rs74806537

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