ClinVar Miner

List of variants in gene RORA studied for Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_134261.3(RORA):c.1428C>A (p.Thr476=) rs11071539 0.94977
NM_134261.3(RORA):c.196+51424G>A rs73424068 0.00636
NM_134261.3(RORA):c.987A>G (p.Glu329=) rs141640548 0.00411
NM_134261.3(RORA):c.1165G>A (p.Asp389Asn) rs202239576 0.00002
NM_134261.3(RORA):c.133G>A (p.Val45Met) rs1351395580 0.00002
NM_134261.3(RORA):c.140G>C (p.Arg47Thr) rs1256061363 0.00001
NM_134261.3(RORA):c.167-186181C>T rs1400541871 0.00001
NM_134261.3(RORA):c.509G>A (p.Arg170His) rs758295613 0.00001
NM_134261.3(RORA):c.591C>G (p.His197Gln) rs750296474 0.00001
NM_134261.3(RORA):c.592G>A (p.Asp198Asn) rs1044633589 0.00001
NM_134261.3(RORA):c.1019del (p.Arg340fs) rs1057518981
NM_134261.3(RORA):c.1069A>T (p.Lys357Ter) rs2541994504
NM_134261.3(RORA):c.1151A>G (p.Lys384Arg)
NM_134261.3(RORA):c.1183+8G>T rs1452394787
NM_134261.3(RORA):c.1210T>C (p.Phe404Leu) rs2065315266
NM_134261.3(RORA):c.1251A>C (p.Glu417Asp) rs2541974560
NM_134261.3(RORA):c.1304G>A (p.Trp435Ter) rs2541966112
NM_134261.3(RORA):c.1345del (p.Ile449fs) rs2541965807
NM_134261.3(RORA):c.1355C>T (p.Ala452Val) rs2065278310
NM_134261.3(RORA):c.1365C>A (p.His455Gln) rs199865260
NM_134261.3(RORA):c.1385G>A (p.Arg462Gln) rs1433850094
NM_134261.3(RORA):c.1436C>T (p.Ala479Val)
NM_134261.3(RORA):c.1447C>T (p.Arg483Ter) rs2065199547
NM_134261.3(RORA):c.1560A>C (p.Gln520His) rs2541948698
NM_134261.3(RORA):c.1571A>T (p.Ter524Leu) rs1286381308
NM_134261.3(RORA):c.166+91672A>G rs2140857527
NM_134261.3(RORA):c.167-69528A>G rs1479095602
NM_134261.3(RORA):c.17C>T (p.Ala6Val) rs1596088862
NM_134261.3(RORA):c.196+51284T>A rs1433404184
NM_134261.3(RORA):c.196+51382_196+51385del rs539921893
NM_134261.3(RORA):c.196+51421T>A
NM_134261.3(RORA):c.197-11T>C rs927119524
NM_134261.3(RORA):c.197-26402G>A
NM_134261.3(RORA):c.197-26447T>C rs200399670
NM_134261.3(RORA):c.19G>T (p.Ala7Ser) rs769104777
NM_134261.3(RORA):c.203T>A (p.Ile68Asn) rs2542193929
NM_134261.3(RORA):c.215C>T (p.Pro72Leu) rs2542193896
NM_134261.3(RORA):c.274G>A (p.Gly92Ser) rs2542193600
NM_134261.3(RORA):c.275G>C (p.Gly92Ala) rs1555427498
NM_134261.3(RORA):c.281A>G (p.Lys94Arg) rs1555427497
NM_134261.3(RORA):c.32C>T (p.Ala11Val) rs2140955720
NM_134261.3(RORA):c.386G>A (p.Arg129Gln) rs1595889010
NM_134261.3(RORA):c.409G>A (p.Gly137Arg) rs2542073116
NM_134261.3(RORA):c.424+1G>A rs2542073001
NM_134261.3(RORA):c.440G>A (p.Arg147Gln) rs2542052131
NM_134261.3(RORA):c.499C>T (p.Gln167Ter) rs2542051691
NM_134261.3(RORA):c.505C>T (p.Gln169Ter) rs2542051635
NM_134261.3(RORA):c.559_566del (p.Asn187fs)
NM_134261.3(RORA):c.56G>C (p.Gly19Ala) rs2505120819
NM_134261.3(RORA):c.604A>G (p.Asn202Asp) rs2141320009
NM_134261.3(RORA):c.613G>A (p.Asp205Asn) rs2542050206
NM_134261.3(RORA):c.626_627del (p.Pro209fs) rs2141319872
NM_134261.3(RORA):c.698_719dup (p.Lys240_Pro241insSerTer) rs2542049088
NM_134261.3(RORA):c.731dup (p.Cys245fs)
NM_134261.3(RORA):c.802G>A (p.Val268Met) rs771655652
NM_134261.3(RORA):c.804_805del (p.Ser269fs) rs1555423812
NM_134261.3(RORA):c.821-17_827delinsGCTTTCGTGTTTG rs1595874995
NM_134261.3(RORA):c.821-1G>C rs2141286878
NM_134261.3(RORA):c.842C>T (p.Ser281Phe) rs767105674
NM_134261.3(RORA):c.851A>C (p.His284Pro) rs2542010945
NM_134261.3(RORA):c.867_876dup (p.Glu293fs) rs1595874842
NM_134261.3(RORA):c.919G>C (p.Glu307Gln) rs2065471243
NM_134261.3(RORA):c.932A>G (p.Tyr311Cys) rs2141286172
NM_134261.3(RORA):c.974_975delinsAA (p.Ile325Lys) rs2541995284

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