ClinVar Miner

List of variants studied for atypical Rett syndrome by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.18419574_18504791del
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
Single allele

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