ClinVar Miner

List of variants studied for Rett syndrome by Mendelics

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Total variants: 24
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HGVS dbSNP
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_004992.3(MECP2):c.*98dup rs267608341
NM_004992.3(MECP2):c.-99+1G>A rs786205048
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1117_1171del (p.Ser373fs)
NM_004992.3(MECP2):c.1133C>G (p.Ala378Gly) rs201314910
NM_004992.3(MECP2):c.26+49A>T
NM_004992.3(MECP2):c.26+83del
NM_004992.3(MECP2):c.274_275dup (p.Pro93fs)
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.466G>T (p.Asp156Tyr)
NM_004992.3(MECP2):c.484A>G (p.Arg162Gly) rs727505391
NM_004992.3(MECP2):c.505G>T (p.Glu169Ter)
NM_004992.3(MECP2):c.517C>A (p.Pro173Thr)
NM_004992.3(MECP2):c.749dup (p.Gly252fs)

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