ClinVar Miner

List of variants studied for Rett syndrome by OMIM

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Total variants: 24
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HGVS dbSNP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, IVS2AS, A-G, -2
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.488_489del (p.Gly163fs) rs267608488
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.766_779dup (p.Asp260fs) rs267608524

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