ClinVar Miner

List of variants reported as not provided for atypical Rett syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 14q12(chr14:28688830-30017377)x1
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
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.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val) rs786204962
NM_003159.3(CDKL5):c.2921T>C (p.Met974Thr) rs2147197846
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204

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