ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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Total variants: 72
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HGVS dbSNP gnomAD frequency
FH Bologna 2
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-187-?_940+?dup
NM_000527.4(LDLR):c.-228G>C
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del)
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1036C>G (p.Leu346Val)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp)
NM_000527.5(LDLR):c.2140+30G>A
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.245G>C (p.Cys82Ser)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.2548-23C>T
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(190+1_191-1)_(694+1_695-1)dup
c.(313+1_314-1)_(1186+1_1187-1)dup

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