List of variants reported as uncertain significance for not provided by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.*14G>A	rs199963992	0.00037
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)	rs267608626	0.00009
NM_001957.4(EDNRA):c.1142A>C (p.Gln381Pro)	rs1219791712	0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp)	rs767506087	0.00001
NM_001110792.2(MECP2):c.*9G>T	rs144008995
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro)	rs1557137884
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys)	rs1332969540
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)	rs61749701
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	rs398123566
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe)	rs1557136251
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)	rs786203995

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