ClinVar Miner

List of variants reported as pathogenic for atypical Rett syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq28(chrX:153295818-153298008)
NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs)
NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs)
NM_001110792.2(MECP2):c.268dup (p.Ser90fs)
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294

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