ClinVar Miner

List of variants in gene combination NR2C2AP, RFXANK reported as uncertain significance for MHC class II deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123
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.778G>A (p.Glu260Lys)

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