ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000449.3(RFX5):c.*1084A>C rs116826799
NM_000449.3(RFX5):c.*244A>G rs2233857
NM_000449.3(RFX5):c.*283A>G rs1752387
NM_000449.3(RFX5):c.*888T>C rs7552906
NM_000449.3(RFX5):c.1226C>G (p.Pro409Arg) rs2233854
NM_000449.3(RFX5):c.1379G>A (p.Ser460Asn) rs142053610
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.1569G>A (p.Glu523=) rs137968641
NM_000449.3(RFX5):c.222T>G (p.Thr74=) rs145198853
NM_000449.3(RFX5):c.233+4G>C rs2233846
NM_000449.3(RFX5):c.477T>C (p.Tyr159=) rs144353639
NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) rs2233851
NM_000449.3(RFX5):c.64G>A (p.Ala22Thr) rs2233843
NM_000449.3(RFX5):c.753T>C (p.Leu251=) rs1752386
NM_000449.3(RFX5):c.900C>T (p.Leu300=) rs2233853
NM_000449.3(RFX5):c.982C>A (p.Arg328=) rs78854744
NM_000449.3(RFX5):c.984G>A (p.Arg328=) rs374283593

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