ClinVar Miner

List of variants in gene LDLR reported by OMIM

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Total variants: 65
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HGVS dbSNP
FH Aarhus
FH Bologna 2
FH Cape Town 2
FH French Canadian 5
FH Leiden 3
FH London 1
FH London 2
FH Nashville
FH Paris 1 rs1555803632
FH Paris 2
FH Pavia
FH Reykjavik
FH Tonami 1
FH Tsukuba 2
FH Vancouver 2
FH Vancouver 3
FH Vancouver 4
FH Vancouver 6
LDLR, EX17-18DEL
LDLR, EX2-8DUP
NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.4(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.4(LDLR):c.2447_2450dupAGAA (p.Asn817Lysfs) rs387906302
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.651_653TGG[1] (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.925_931delCCCATCA (p.Pro309Lysfs) rs387906304
NM_000527.4(LDLR):c.97C>T (p.Gln33Ter) rs121908024
nsv1067857

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