ClinVar Miner

List of variants reported as likely benign for atypical Rett syndrome by Centre for Population Genomics, CPG

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
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.1177C>T (p.Pro393Ser) rs61752981 0.00004
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.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.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203 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.1212G>A (p.Glu404=) rs61753009 0.00001
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980 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.315C>T (p.Pro105=) rs267608447 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.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.583G>C (p.Gly195Arg) rs61749706 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.1101C>T (p.Ser367=) rs267608563
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
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_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.413+266T>G
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) rs61748421
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.756C>G (p.Thr252=) rs61749746
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu) rs61750229
NM_001110792.2(MECP2):c.917G>C (p.Arg306Pro) rs61751366
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) rs61751372
NM_001323289.2(CDKL5):c.283-25A>G
NM_005249.5(FOXG1):c.141CCA[8] (p.His57dup) rs587783630

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