ClinVar Miner

List of variants in gene IFNGR2, TMEM50B studied for Immunodeficiency 28

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Total variants: 63
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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+15A>G rs372109363 0.00073
NM_005534.4(IFNGR2):c.879+19del rs193922682 0.00070
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.940G>A (p.Asp314Asn) rs369529404 0.00012
NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn) rs121913219 0.00007
NM_005534.4(IFNGR2):c.879+5G>A rs375538161 0.00006
NM_005534.4(IFNGR2):c.771G>A (p.Ser257=) rs115458101 0.00005
NM_005534.4(IFNGR2):c.724T>A (p.Ser242Thr) rs145216430 0.00004
NM_005534.4(IFNGR2):c.764C>T (p.Thr255Ile) rs373582182 0.00004
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.977C>T (p.Pro326Leu) rs202237583 0.00003
NM_005534.4(IFNGR2):c.722-8C>G rs376105280 0.00002
NM_005534.4(IFNGR2):c.757G>A (p.Val253Met) rs191792822 0.00002
NM_005534.4(IFNGR2):c.795C>T (p.Ala265=) rs566154275 0.00002
NM_005534.4(IFNGR2):c.869A>C (p.Gln290Pro) rs143025663 0.00002
NM_005534.4(IFNGR2):c.879+17C>A rs1386597042 0.00002
NM_005534.4(IFNGR2):c.879+4C>T rs770663375 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.946G>A (p.Val316Ile) rs766433285 0.00001
NM_005534.4(IFNGR2):c.949T>C (p.Trp317Arg) rs755201347 0.00001
NM_005534.4(IFNGR2):c.971C>T (p.Ser324Leu) rs749163514 0.00001
NC_000021.8:g.(?_34799171)_(34809289_?)dup
NM_005534.4(IFNGR2):c.1006A>G (p.Thr336Ala) rs202122427
NM_005534.4(IFNGR2):c.1007C>G (p.Thr336Arg) rs763384272
NM_005534.4(IFNGR2):c.1007C>T (p.Thr336Met) rs763384272
NM_005534.4(IFNGR2):c.1013G>C (p.Ter338Ser)
NM_005534.4(IFNGR2):c.722-10C>T
NM_005534.4(IFNGR2):c.761G>A (p.Gly254Glu)
NM_005534.4(IFNGR2):c.761G>T (p.Gly254Val)
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.788C>T (p.Ala263Val) rs2083902202
NM_005534.4(IFNGR2):c.791G>A (p.Gly264Glu) rs2083902242
NM_005534.4(IFNGR2):c.800del (p.Phe267fs) rs2123370265
NM_005534.4(IFNGR2):c.802T>C (p.Phe268Leu) rs2123370275
NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)
NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)
NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)
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+18dup rs201322939
NM_005534.4(IFNGR2):c.879+19_879+20del rs750203174
NM_005534.4(IFNGR2):c.879+19_879+21del rs753453319
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
NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val) rs893539360
NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)
NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser) rs2123384586
NM_005534.4(IFNGR2):c.958G>C (p.Val320Leu)
NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)
NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del) rs760530034

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