ClinVar Miner

List of variants in gene LDLR reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
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.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
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.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00812
NM_000527.4(LDLR):c.-268G>T rs17249134 0.00679
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.1705+20G>A rs374417615 0.00107
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1705+18C>A rs186896947 0.00022
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.818-15C>G rs79433354 0.00001
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-143C>T
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1187-3dup
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1987+19C>T
NM_000527.5(LDLR):c.1988-3dup
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.67+833T>C rs57217136
NM_000527.5(LDLR):c.694+24dup
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
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)

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