ClinVar Miner

List of variants reported as likely benign for Rett syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.*806G>A rs267608363 0.00009
NM_001110792.2(MECP2):c.627G>A (p.Thr209=) rs61749716 0.00009
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) rs587783107 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00004
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691 0.00003
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) rs267608619 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442 0.00003
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) rs61749740 0.00003
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) rs782086416 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.*5839C>T rs267608368 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) rs587783106 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) rs267608628 0.00002
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) rs61754440 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 0.00001
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) rs61753009 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.1472C>T (p.Thr491Met) rs267608635 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 0.00001
NM_001110792.2(MECP2):c.333C>G (p.Thr111=) rs61754450 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.414-42A>G rs786205893 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001110792.2(MECP2):c.984C>G (p.Val328=) rs61751447 0.00001
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.*36G>C rs267608347
NM_001110792.2(MECP2):c.*831G>C rs190920575
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) rs61749710
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) rs61751372
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188

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