ClinVar Miner

List of variants in gene RFX5 reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.1025del (p.Pro342fs)
NM_001025603.2(RFX5):c.117-1G>T
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.353+2T>G rs1183832067
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_001025603.2(RFX5):c.859-2A>G

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