ClinVar Miner

List of variants in gene RFX5 reported as uncertain significance for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NM_000449.3(RFX5):c.*1078C>T rs886045278
NM_000449.3(RFX5):c.*1118A>G rs755296550
NM_000449.3(RFX5):c.*1177C>T rs567453441
NM_000449.3(RFX5):c.*1252C>G rs886045277
NM_000449.3(RFX5):c.*1330C>T rs886045276
NM_000449.3(RFX5):c.*1520_*1521insATT rs529662057
NM_000449.3(RFX5):c.*224T>C rs886045281
NM_000449.3(RFX5):c.*364A>C rs769251514
NM_000449.3(RFX5):c.*373G>T rs886045280
NM_000449.3(RFX5):c.*694del rs570133232
NM_000449.3(RFX5):c.*838A>G rs552790524
NM_000449.3(RFX5):c.*985del rs886045279
NM_000449.3(RFX5):c.-138-8C>A rs886045284
NM_000449.3(RFX5):c.-98G>A rs555635380
NM_000449.3(RFX5):c.1020_1022dup (p.Ile341dup) rs1571257755
NM_000449.3(RFX5):c.1037T>A (p.Val346Asp) rs776636293
NM_000449.3(RFX5):c.1039T>C (p.Ser347Pro) rs199761884
NM_000449.3(RFX5):c.1114G>C (p.Gly372Arg) rs968244065
NM_000449.3(RFX5):c.1150A>T (p.Ile384Phe) rs1478758721
NM_000449.3(RFX5):c.1236A>G (p.Thr412=) rs771403545
NM_000449.3(RFX5):c.1322C>G (p.Ala441Gly) rs148572733
NM_000449.3(RFX5):c.1393A>C (p.Lys465Gln) rs375408133
NM_000449.3(RFX5):c.1406C>T (p.Pro469Leu) rs756355701
NM_000449.3(RFX5):c.1409G>A (p.Arg470Gln) rs138131380
NM_000449.3(RFX5):c.1415A>T (p.Lys472Met) rs1265793800
NM_000449.3(RFX5):c.1510G>A (p.Gly504Ser) rs372047964
NM_000449.3(RFX5):c.1604dup (p.Asp536fs) rs1557829931
NM_000449.3(RFX5):c.1639G>A (p.Gly547Ser) rs147579805
NM_000449.3(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_000449.3(RFX5):c.1688C>T (p.Ser563Leu) rs150072792
NM_000449.3(RFX5):c.1746G>C (p.Lys582Asn) rs750907232
NM_000449.3(RFX5):c.1805G>A (p.Ser602Asn) rs371115213
NM_000449.3(RFX5):c.1830C>G (p.Asp610Glu) rs141889707
NM_000449.3(RFX5):c.1838del (p.Ala613fs) rs1557829420
NM_000449.3(RFX5):c.40G>A (p.Gly14Arg) rs143245407
NM_000449.3(RFX5):c.415A>G (p.Ile139Val) rs1363432272
NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_000449.3(RFX5):c.477T>C (p.Tyr159=) rs144353639
NM_000449.3(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_000449.3(RFX5):c.547T>C (p.Ser183Pro) rs192832486
NM_000449.3(RFX5):c.778C>T (p.Arg260Trp) rs573462368
NM_000449.3(RFX5):c.803A>G (p.Asn268Ser) rs1571258872
NM_000449.3(RFX5):c.858+13G>A rs778371620
NM_000449.3(RFX5):c.892G>A (p.Gly298Ser) rs146341254
NM_000449.3(RFX5):c.938C>T (p.Ser313Leu) rs140885618
NM_001025603.2(RFX5):c.*1158G>A
NM_001025603.2(RFX5):c.*1166A>G
NM_001025603.2(RFX5):c.*1426A>G
NM_001025603.2(RFX5):c.*29T>G
NM_001025603.2(RFX5):c.*661T>C
NM_001025603.2(RFX5):c.*721G>T
NM_001025603.2(RFX5):c.*761A>T
NM_001025603.2(RFX5):c.*881C>T
NM_001025603.2(RFX5):c.-131-15T>C
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln)
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val)
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala)
NM_001025603.2(RFX5):c.10G>A (p.Asp4Asn)
NM_001025603.2(RFX5):c.1159A>G (p.Thr387Ala)
NM_001025603.2(RFX5):c.117-13C>T
NM_001025603.2(RFX5):c.1201G>A (p.Ala401Thr)
NM_001025603.2(RFX5):c.1202C>T (p.Ala401Val)
NM_001025603.2(RFX5):c.129G>A (p.Gln43=)
NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr)
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr)
NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu)
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
NM_001025603.2(RFX5):c.382C>T (p.Arg128Cys)
NM_001025603.2(RFX5):c.433G>C (p.Asp145His)
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly)
NM_001025603.2(RFX5):c.514A>G (p.Met172Val)
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala)
NM_001025603.2(RFX5):c.785G>A (p.Arg262Gln)
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
NM_001025603.2(RFX5):c.833A>T (p.His278Leu)
NM_001025603.2(RFX5):c.851T>C (p.Leu284Pro)
NM_001025603.2(RFX5):c.859-15C>T
NM_001025603.2(RFX5):c.901G>A (p.Ala301Thr)

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