ClinVar Miner

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

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.-31_-30AG[2] rs587783128
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980
NM_001110792.2(MECP2):c.1447_1448AG[2] (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
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_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_004992.4(MECP2):c.-212_-205= rs782107551

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