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. 2012 Feb 10;90(2):369–377. doi: 10.1016/j.ajhg.2011.12.023

Table 2.

Rare-Variant Analysis in Individuals with MFDMa

Any X of Four Individuals 1 2 3 4
Genes containing missense, nonsense, in/del, or splice-site variants 2,523 196 18 2
Allele frequency of ≤1% in dbSNP131, 1000 Genomes, and 120 local exomes 1,474 161 8b 1 (MUC4)c
a

With a dominant model of disease.

b

Including EFTUD2.

c

Private MUC4 variants are a frequent finding at our center; therefore, this gene was deliberately excluded from further analysis.