ClinVar Miner

List of variants in gene combination IFNGR2, TMEM50B reported as benign for Immunodeficiency 28

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.879+19C>T rs17883129 0.37206
NM_005534.4(IFNGR2):c.978G>A (p.Pro326=) rs17885407 0.00181
NM_005534.4(IFNGR2):c.984G>A (p.Lys328=) rs121913220 0.00141
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
NM_005534.4(IFNGR2):c.879+18dup rs201322939
NM_005534.4(IFNGR2):c.879+19_879+20del rs750203174
NM_005534.4(IFNGR2):c.879+31_879+32dup rs143248516
NM_005534.4(IFNGR2):c.879+32del rs143248516
NM_005534.4(IFNGR2):c.879+32dup rs143248516

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