ClinVar Miner

List of variants in gene FMR1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
FMR1, (CGG)n EXPANSION
NC_000023.9:g.146703942_146820448del
NM_002024.5(FMR1):c.-128GGC[>200]
NM_002024.5(FMR1):c.373del (p.Thr125fs) rs1569545562
NM_002024.5(FMR1):c.52-1_52delinsTA rs1557176576
NM_002024.5(FMR1):c.80C>A (p.Ser27Ter) rs1569545382
NM_002024.5(FMR1):c.911T>A (p.Ile304Asn) rs121434622

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