ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) rs199766976 0.00003
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.5(LDLR):c.-80T>C
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1353C>G (p.Ile451Met)
NM_000527.5(LDLR):c.138C>G (p.Cys46Trp)
NM_000527.5(LDLR):c.1474G>T (p.Asp492Tyr)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser) rs879255064
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) rs2077524048
NM_000527.5(LDLR):c.1891G>C (p.Ala631Pro)
NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg) rs1301407364
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2390-3C>G rs755033580
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2500G>C (p.Asp834His)
NM_000527.5(LDLR):c.2512A>G (p.Ile838Val) rs1600765567
NM_000527.5(LDLR):c.347G>A (p.Cys116Tyr) rs879254485
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.453C>T (p.Ala151=)
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) rs879254567
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) rs879254611
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.818-7C>G
NM_000527.5(LDLR):c.899G>C (p.Arg300Thr)

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