Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1566147422
rs1566147422
MYL2
12 110911146 frameshift variant AG/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs751392310
rs751392310
MYL2
12 110919103 inframe deletion CCT/- delins 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0