ClinVar Miner

List of variants reported as uncertain significance for not specified by RettBASE

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) rs61754440 0.00002
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001323289.2(CDKL5):c.2378T>C (p.Val793Ala) rs62643617 0.00001
NM_001323289.2(CDKL5):c.99+29T>G rs267608422 0.00001
NM_000330.4(RS1):c.184+3094G>A rs267608394
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) rs61748387
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) rs1557135313
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) rs63749028
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) rs61753974
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) rs61755762
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) rs267608456
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550

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