ClinVar Miner

List of variants in gene LDLR reported by SNPedia

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Total variants: 13
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HGVS dbSNP
NM_000527.4(LDLR):c.1004G>A (p.Gly335Asp) rs869320650
NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.4(LDLR):c.1356C>T (p.Cys452=) rs137853961
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.4(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.4(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.355G>A (p.Gly119Arg) rs869320648
NM_000527.4(LDLR):c.653delG (p.G218Vfs*46) rs137853966
NM_000527.4(LDLR):c.660_661insTG (p.Asp221fs) rs869320649

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