ClinVar Miner

List of variants in gene LDLR reported as benign for Familial hypercholesterolemia

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Total variants: 42
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HGVS dbSNP
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.-268G>T rs17249134
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1586+16G>A
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.2358C>T (p.Ser786=) rs183255090
NM_000527.4(LDLR):c.2389+8C>T rs747170426
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.345C>G (p.Arg115=) rs150144164
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.694+9G>A rs34093283
NM_000527.4(LDLR):c.817+9T>C
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.940+9C>T
NM_000527.4(LDLR):c.993C>T (p.Asp331=) rs147905921
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.5(LDLR):c.1988-5C>G rs375877599
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.2390-16G>A rs183496025
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855
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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