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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:11647402
GRCh38:
Chr16:11553546
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Apr 1, 2005)
no assertion criteria provided
2.
GRCh37:
Chr16:11647432
GRCh38:
Chr16:11553576
LITAFCharcot-Marie-Tooth disease, type 1C, not providedGO-ESP:0.00008(T)Pathogenic
(Sep 3, 2015)
criteria provided, multiple submitters, no conflicts
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