ClinVar Miner

List of variants in gene NR2C2AP, RFXANK studied for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_003721.4(RFXANK):c.*12C>T rs10413280
NM_003721.4(RFXANK):c.*9T>C rs73922832
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498
NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972
NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser) rs759707164
NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) rs199868077
NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys)

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