ClinVar Miner

List of variants in gene LDLR reported as benign by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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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_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_000527.4(LDLR):c.-217C>T rs17249141 0.00338
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.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.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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