RS118056738 FLNC

Health Risk Chr 7:128840084 snv missense variant
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Associated Conditions
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 26
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy 26
Distal myopathy with posterior leg and anterior hand involvement
Myofibrillar myopathy 5
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in FLNC
rs121909518 rs1562995872 rs387906586 rs387906587 rs138193236 rs587780337 rs201905890 rs112194548 rs767576240 rs368121231
Ask Dr. Hemsworth about this variant