ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Robarts Research Institute,Western University

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1
GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1
GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1
GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1
GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1
GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1
GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1
GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1
GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1
GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1
GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1
GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.4(LDLR):c.1494_1495CT[1] (p.Ser499fs) rs879254922
NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.4(LDLR):c.1693_1696del (p.Gly565fs) rs1555806088
NM_000527.4(LDLR):c.2178del (p.Val727fs) rs879255156
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2390-2A>G rs767790696
NM_000527.4(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.4(LDLR):c.571C>T (p.Gln191Ter) rs879254578

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