ClinVar Miner

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

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Total variants: 18
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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_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.4(LDLR):c.-2038C>T rs17248720 0.16494
NM_000497.4(CYP11B1):c.596-41C>T rs113759408 0.14096
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
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_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.239+20T>A rs6388 0.03859
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000527.5(LDLR):c.1060+10G>C

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