ClinVar Miner

List of variants studied for atypical Rett syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)
NM_001323289.2(CDKL5):c.282+5G>A rs1925269123
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_005249.5(FOXG1):c.541A>T (p.Lys181Ter)

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