ClinVar Miner

List of variants in gene LDLR reported as benign by Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.4(LDLR):c.-2038C>T rs17248720 0.16494
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.1060+10G>C

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