ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005534.4(IFNGR2):c.879+15A>G rs372109363 0.00073
NM_005534.4(IFNGR2):c.939G>A (p.Lys313=) rs138655852 0.00031
NM_005534.4(IFNGR2):c.756C>T (p.Ser252=) rs186369364 0.00021
NM_005534.4(IFNGR2):c.771G>A (p.Ser257=) rs115458101 0.00005
NM_005534.4(IFNGR2):c.779C>T (p.Ser260Leu) rs116536727 0.00004
NM_005534.4(IFNGR2):c.780G>A (p.Ser260=) rs121913217 0.00004
NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=) rs121913221 0.00003
NM_005534.4(IFNGR2):c.722-8C>G rs376105280 0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=) rs566154275 0.00002
NM_005534.4(IFNGR2):c.879+17C>A rs1386597042 0.00002
NM_005534.4(IFNGR2):c.945C>T (p.Asp315=) rs1802585 0.00002
NM_005534.4(IFNGR2):c.957T>C (p.Ser319=) rs141705742 0.00002
NM_005534.4(IFNGR2):c.774G>A (p.Leu258=) rs1280277219 0.00001
NM_005534.4(IFNGR2):c.722-10C>T
NM_005534.4(IFNGR2):c.768T>C (p.Phe256=)
NM_005534.4(IFNGR2):c.780G>C (p.Ser260=) rs121913217
NM_005534.4(IFNGR2):c.786G>A (p.Leu262=)
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)
NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)
NM_005534.4(IFNGR2):c.879+17C>G rs1386597042
NM_005534.4(IFNGR2):c.879+18_879+19insTT rs201322939
NM_005534.4(IFNGR2):c.879+19_879+21del rs753453319
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)

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