ClinVar Miner

List of variants reported as likely benign for Familial hypercholesterolemia by Natera, Inc.

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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) rs543454612 0.00009
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=) rs375358854 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.2241C>T (p.Pro747=) rs554523758 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=) rs554028072 0.00003
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.72C>T (p.Gly24=) rs774304077 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=) rs776681796 0.00002
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.2389+10G>A rs780920371 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.5(LDLR):c.585C>T (p.Ser195=) rs756880555 0.00001
NM_015627.3(LDLRAP1):c.617-8C>T rs746302717 0.00001
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2496A>G (p.Thr832=) rs1600765476
NM_000527.5(LDLR):c.2547+9C>T rs746674813
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.806G>A (p.Gly269Asp)
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)
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=) rs1572039510

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