ClinVar Miner

List of variants reported as likely benign for Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2

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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_032790.4(ORAI1):c.132A>G (p.Pro44=) rs554617167 0.00402
NM_032790.4(ORAI1):c.135_136insT (p.Pro46Serfs) rs375895928 0.00381
NM_032790.4(ORAI1):c.49C>T (p.Pro17Ser) rs568054544 0.00146
NM_032790.4(ORAI1):c.668A>G (p.Asn223Ser) rs75603737 0.00127
NM_032790.4(ORAI1):c.763G>A (p.Val255Ile) rs376286032 0.00014
NM_032790.4(ORAI1):c.735C>T (p.Pro245=) rs370588656 0.00013
NM_032790.3(ORAI1):c.309-4G>A rs371157536 0.00009
NM_032790.4(ORAI1):c.693G>A (p.Pro231=) rs200214435 0.00008
NM_032790.4(ORAI1):c.123G>A (p.Gly41=) rs782246766 0.00005
NM_032790.4(ORAI1):c.330C>T (p.Asp110=) rs375801854 0.00004
NM_032790.4(ORAI1):c.540C>T (p.Thr180=) rs782560001 0.00004
NM_032790.4(ORAI1):c.558C>T (p.Leu186=) rs781982396 0.00003
NM_032790.4(ORAI1):c.759C>T (p.Phe253=) rs539371248 0.00003
NM_032790.4(ORAI1):c.240C>T (p.Tyr80=) rs199715755 0.00002
NM_032790.4(ORAI1):c.279G>C (p.Ser93=) rs562258866 0.00002
NM_032790.4(ORAI1):c.339C>T (p.His113=) rs782071653 0.00002
NM_032790.4(ORAI1):c.577C>T (p.Leu193=) rs367886026 0.00002
NM_032790.4(ORAI1):c.717G>A (p.Ser239=) rs782232018 0.00002
NM_032790.4(ORAI1):c.783G>A (p.Leu261=) rs781878981 0.00002
NM_032790.4(ORAI1):c.831G>A (p.Ala277=) rs370993629 0.00002
NM_032790.3(ORAI1):c.309-18C>T rs781867634 0.00001
NM_032790.4(ORAI1):c.138G>C (p.Pro46=) rs1555322555 0.00001
NM_032790.4(ORAI1):c.147C>T (p.Ala49=) rs1305999158 0.00001
NM_032790.4(ORAI1):c.199A>C (p.Asn67His) rs557887137 0.00001
NM_032790.4(ORAI1):c.207C>T (p.His69=) rs1566466065 0.00001
NM_032790.4(ORAI1):c.243G>A (p.Leu81=) rs782500934 0.00001
NM_032790.4(ORAI1):c.363C>T (p.Ile121=) rs1893050404 0.00001
NM_032790.4(ORAI1):c.411G>A (p.Ala137=) rs987522369 0.00001
NM_032790.4(ORAI1):c.42C>G (p.Pro14=) rs1330700530 0.00001
NM_032790.4(ORAI1):c.450G>A (p.Ala150=) rs782232478 0.00001
NM_032790.4(ORAI1):c.459C>T (p.Asn153=) rs781980977 0.00001
NM_032790.4(ORAI1):c.462G>A (p.Val154=) rs1555324096 0.00001
NM_032790.4(ORAI1):c.561C>T (p.Phe187=) rs782419547 0.00001
NM_032790.4(ORAI1):c.606C>A (p.Leu202=) rs1160906886 0.00001
NM_032790.4(ORAI1):c.681C>T (p.Ser227=) rs782091639 0.00001
NM_032790.4(ORAI1):c.72C>T (p.Thr24=) rs1224617364 0.00001
NM_032790.4(ORAI1):c.882G>C (p.Leu294=) rs1442961151 0.00001
NC_000012.12:g.121641037G>T
NM_032790.4(ORAI1):c.102C>T (p.Ser34=)
NM_032790.4(ORAI1):c.120G>T (p.Pro40=)
NM_032790.4(ORAI1):c.124G>A (p.Ala42Thr) rs782427834
NM_032790.4(ORAI1):c.131CGC[2][1] (p.Pro46Hisfs) rs782510098
NM_032790.4(ORAI1):c.132A>C (p.Pro44=) rs554617167
NM_032790.4(ORAI1):c.135G>C (p.Pro45=) rs1227828097
NM_032790.4(ORAI1):c.135G>T (p.Pro45=) rs1227828097
NM_032790.4(ORAI1):c.138G>T (p.Pro46=) rs1555322555
NM_032790.4(ORAI1):c.141G>A (p.Pro47=) rs1555322557
NM_032790.4(ORAI1):c.150C>T (p.Val50=)
NM_032790.4(ORAI1):c.156C>T (p.Tyr52=)
NM_032790.4(ORAI1):c.159G>C (p.Pro53=)
NM_032790.4(ORAI1):c.171C>G (p.Gly57=)
NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)
NM_032790.4(ORAI1):c.195C>T (p.Ser65=)
NM_032790.4(ORAI1):c.201C>T (p.Asn67=)
NM_032790.4(ORAI1):c.210C>G (p.Ser70=) rs2136842002
NM_032790.4(ORAI1):c.210C>T (p.Ser70=)
NM_032790.4(ORAI1):c.216G>A (p.Gln72=) rs1892793910
NM_032790.4(ORAI1):c.21G>A (p.Pro7=)
NM_032790.4(ORAI1):c.225C>G (p.Ser75=)
NM_032790.4(ORAI1):c.246C>T (p.Ser82=)
NM_032790.4(ORAI1):c.264C>G (p.Ala88=)
NM_032790.4(ORAI1):c.271C>A (p.Arg91=)
NM_032790.4(ORAI1):c.282T>C (p.Ala94=)
NM_032790.4(ORAI1):c.294C>T (p.Gly98=)
NM_032790.4(ORAI1):c.303+13C>T
NM_032790.4(ORAI1):c.306G>A (p.Val102=)
NM_032790.4(ORAI1):c.333T>C (p.Ala111=)
NM_032790.4(ORAI1):c.336C>T (p.Asp112=) rs2136852459
NM_032790.4(ORAI1):c.351G>A (p.Pro117=)
NM_032790.4(ORAI1):c.369C>T (p.Phe123=)
NM_032790.4(ORAI1):c.384A>C (p.Thr128=) rs1555324082
NM_032790.4(ORAI1):c.384A>G (p.Thr128=)
NM_032790.4(ORAI1):c.399G>A (p.Val133=)
NM_032790.4(ORAI1):c.408T>C (p.Phe136=)
NM_032790.4(ORAI1):c.426C>G (p.Thr142=)
NM_032790.4(ORAI1):c.444C>T (p.Ile148=) rs782566002
NM_032790.4(ORAI1):c.456C>T (p.Ser152=)
NM_032790.4(ORAI1):c.471C>G (p.Leu157=)
NM_032790.4(ORAI1):c.477G>A (p.Ser159=) rs547522547
NM_032790.4(ORAI1):c.492C>T (p.Pro164=)
NM_032790.4(ORAI1):c.516C>T (p.Ile172=)
NM_032790.4(ORAI1):c.537C>T (p.Ser179=) rs2136852852
NM_032790.4(ORAI1):c.549C>T (p.Gly183=) rs1555324110
NM_032790.4(ORAI1):c.54A>G (p.Pro18=)
NM_032790.4(ORAI1):c.552G>A (p.Thr184=) rs782215248
NM_032790.4(ORAI1):c.552G>T (p.Thr184=)
NM_032790.4(ORAI1):c.591C>T (p.Val197=)
NM_032790.4(ORAI1):c.630G>A (p.Arg210=) rs1893056910
NM_032790.4(ORAI1):c.63C>T (p.Gly21=)
NM_032790.4(ORAI1):c.648C>G (p.Pro216=) rs782238081
NM_032790.4(ORAI1):c.648C>T (p.Pro216=) rs782238081
NM_032790.4(ORAI1):c.657C>T (p.Gly219=)
NM_032790.4(ORAI1):c.666C>G (p.Ala222=)
NM_032790.4(ORAI1):c.699G>A (p.Gln233=) rs2136853304
NM_032790.4(ORAI1):c.69C>T (p.Thr23=) rs1555322491
NM_032790.4(ORAI1):c.6T>C (p.His2=)
NM_032790.4(ORAI1):c.711C>T (p.Ile237=)
NM_032790.4(ORAI1):c.738C>T (p.Phe246=) rs782401288
NM_032790.4(ORAI1):c.750T>C (p.Phe250=)
NM_032790.4(ORAI1):c.753C>T (p.Ile251=)
NM_032790.4(ORAI1):c.75C>T (p.Ser25=) rs1273511135
NM_032790.4(ORAI1):c.762C>T (p.Ala254=)
NM_032790.4(ORAI1):c.783G>C (p.Leu261=) rs781878981
NM_032790.4(ORAI1):c.807G>A (p.Gln269=)
NM_032790.4(ORAI1):c.834G>A (p.Glu278=) rs1893062288
NM_032790.4(ORAI1):c.84C>G (p.Arg28=)
NM_032790.4(ORAI1):c.888C>T (p.Pro296=) rs782446947

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