ClinVar Miner

List of variants studied for X-linked intellectual disability-psychosis-macroorchidism syndrome by RettBASE

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-187_-186delinsTT rs786205039
NM_004992.3(MECP2):c.-214_-213GC[4] rs782107551
NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) rs267608571
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1161_1400del (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1233_1243del (p.Ser411fs) rs786205036
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.1411_1412AG[2] (p.Glu472fs) rs267608634
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3:c.(?_-226)_(*1_?)dup

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.