RS387906304 LDLR
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What This Variant Does
"aka c.925_931delCCCATCA or p.Pro309Lysfs reported in ClinVar as pathogenic for familial hypercholest...
Associated Conditions
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Hypercholesterolemia
familial
1
Familial hypercholesterolemia
Other Variants in LDLR