ClinVar Miner

List of variants in gene LDLR reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 12
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NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7= rs2738442
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) rs375009082
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029

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