Table 2.

Reported disease associated variants.

Gene	NCBI Reference Sequence	Protein	Variant	Minor Allele Frequency All/EA/AA	African American	Clinical syndrome previously described
VCP	NM_007126.3	Valosin containing protein	R95C	0/0/0	N	IBMPFD [27]
VCP	NM_007126.3	Valosin containing protein	I27V	0.092/0.035/0.204	N	IBMPFD [28]; Parkinsons Disease [29]
SQSTM1	NM_001142298.1	Sequestosome-1	E274D	1.868/2.535/0.567	N	ALS [30]
DES	NM_001927.3	Desmin	V459I	1.2/0.012/3.56	Y	Cardiomyopathy [31]
DES	NM_001927.3	Desmin	A213V	1.053/1.372/0.431	N	Cardiomyopathy [31,32]; Myopathy [33]
MYOT	NM_006790.2	Myotilin	K74Q	1.484/0.0/4.38	Y	Myofibrillar myopathy [34,35]
FHL1	NM_001159699.1	Four and half LIM domains protein 1	D275N	1.306/1.858/0.339	Y	Cardiomyopathy [36]; Myopathy [37]