ClinVar Miner

List of variants in gene RFXAP 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: 53
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HGVS dbSNP
NC_000013.11:g.36819216T>C
NC_000013.11:g.36829294G>C
NC_000013.11:g.36829304A>G
NC_000013.11:g.36829456A>T
NC_000013.11:g.36829483G>A
NM_000538.3(RFXAP):c.*1240G>T rs886050144
NM_000538.3(RFXAP):c.*1387T>C rs886050145
NM_000538.3(RFXAP):c.*1431_*1432del rs886050146
NM_000538.3(RFXAP):c.*1663G>A rs886050147
NM_000538.3(RFXAP):c.*1826del rs142735439
NM_000538.3(RFXAP):c.*818A>G rs545155315
NM_000538.3(RFXAP):c.*81G>A rs886050143
NM_000538.3(RFXAP):c.-101T>G rs566055344
NM_000538.3(RFXAP):c.-105C>A rs527311083
NM_000538.3(RFXAP):c.-116C>G rs886050141
NM_000538.3(RFXAP):c.-144G>A rs886050140
NM_000538.3(RFXAP):c.129A>G (p.Gln43=)
NM_000538.3(RFXAP):c.14G>T (p.Gly5Val)
NM_000538.3(RFXAP):c.15T>C (p.Gly5=) rs772887500
NM_000538.3(RFXAP):c.192C>G (p.Ser64Arg) rs758076793
NM_000538.3(RFXAP):c.236G>A (p.Gly79Glu)
NM_000538.3(RFXAP):c.265G>C (p.Glu89Gln) rs1290515755
NM_000538.3(RFXAP):c.302G>C (p.Gly101Ala) rs1474685587
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.343G>A (p.Glu115Lys)
NM_000538.3(RFXAP):c.455A>G (p.Gln152Arg)
NM_000538.3(RFXAP):c.456G>C (p.Gln152His) rs201926069
NM_000538.3(RFXAP):c.467A>G (p.Gln156Arg) rs1566318990
NM_000538.3(RFXAP):c.503A>G (p.Lys168Arg)
NM_000538.3(RFXAP):c.573T>A (p.Thr191=) rs200198351
NM_000538.3(RFXAP):c.58C>T (p.His20Tyr) rs1555302467
NM_000538.3(RFXAP):c.59A>G (p.His20Arg)
NM_000538.3(RFXAP):c.601-4C>T rs886050142
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000538.3(RFXAP):c.709-7_709-4del rs749945016
NM_000538.3(RFXAP):c.77C>G (p.Pro26Arg) rs763162669
NM_000538.3(RFXAP):c.788G>A (p.Arg263Lys) rs144169233
NM_000538.3(RFXAP):c.801T>C (p.Phe267=) rs536976297
NM_000538.3(RFXAP):c.814A>G (p.Met272Val)
NM_000538.4(RFXAP):c.*201T>A
NM_000538.4(RFXAP):c.*351G>A
NM_000538.4(RFXAP):c.*488A>G
NM_000538.4(RFXAP):c.*660A>T
NM_000538.4(RFXAP):c.-131C>T
NM_000538.4(RFXAP):c.-82G>C
NM_000538.4(RFXAP):c.150A>T (p.Gln50His)
NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr)
NM_000538.4(RFXAP):c.204C>T (p.Gly68=)
NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro)
NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe)
NM_000538.4(RFXAP):c.298G>C (p.Gly100Arg)
NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu)
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val)

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