ClinVar Miner

List of variants in gene LDLR reported as not provided by SNPedia

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Total variants: 8
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HGVS dbSNP
NM_000527.4(LDLR):c.1356C>T (p.Cys452=) rs137853961
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)

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