ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Genome-Nilou Lab

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_001025603.2(RFX5):c.914G>A (p.Arg305Gln) rs374354196 0.00025
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_001025603.2(RFX5):c.1322C>G (p.Ala441Gly) rs148572733 0.00006
NM_001025603.2(RFX5):c.474-3C>A rs373984217 0.00006
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_000246.4(CIITA):c.2335G>A (p.Ala779Thr) rs747159521 0.00003
NM_001025603.2(RFX5):c.778C>T (p.Arg260Trp) rs573462368 0.00003
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr) rs966468525 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1178G>C (p.Gly393Ala) rs779249436 0.00001
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln) rs759307276
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val) rs201420133
NM_001025603.2(RFX5):c.1387A>G (p.Lys463Glu)
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp) rs1557830458
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.784C>G (p.Arg262Gly) rs773920954

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