ClinVar Miner

List of variants in gene combination NR2C2AP, RFXANK reported as likely 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: 11
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HGVS dbSNP gnomAD frequency
NM_176880.6(NR2C2AP):c.*197A>G rs73922832 0.03001
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498 0.00545
NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) rs199868077 0.00009
NM_176880.6(NR2C2AP):c.*296A>G rs778907929 0.00009
NM_003721.4(RFXANK):c.741C>G (p.Leu247=) rs768433483 0.00003
NM_176880.6(NR2C2AP):c.*282A>G rs757150693 0.00001
NM_176880.6(NR2C2AP):c.*284G>C rs752799290 0.00001
NM_003721.4(RFXANK):c.759C>T (p.Asn253=)
NM_003721.4(RFXANK):c.762G>T (p.Leu254=)
NM_176880.6(NR2C2AP):c.*281G>T
NM_176880.6(NR2C2AP):c.*283T>C

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