ClinVar Miner

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

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001025603.2(RFX5):c.753C>T (p.Leu251=) rs1752386 0.97700
NM_001025603.2(RFX5):c.*283A>G rs1752387 0.78764
NM_001025603.2(RFX5):c.*888T>C rs7552906 0.62946
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_001025603.2(RFX5):c.*244A>G rs2233857 0.03351
NM_001025603.2(RFX5):c.753= (p.Leu251=) rs1752386 0.02300
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01686
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00879
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00866
NM_001025603.2(RFX5):c.*1084A>C rs116826799 0.00576
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_001025603.2(RFX5):c.222T>G (p.Thr74=) rs145198853 0.00112
NM_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00031
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00021
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_001025603.2(RFX5):c.150+11T>C
NM_001025603.2(RFX5):c.757+20T>C

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