ClinVar Miner

List of variants in gene combination LDLR, MIR6886 studied for Familial hypercholesterolemia

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Total variants: 27
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HGVS dbSNP
FH Osaka 2
NC_000019.9:g.(?_11222170)_(11224458_?)del
NC_000019.9:g.(?_11223934)_(11227694_?)dup
NC_000019.9:g.(?_11223948)_(11231204_?)del
NC_000019.9:g.(?_11223954)_(11244506_?)del
NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]
NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]
NM_000527.4(LDLR):c.1186+700_2141-545del
NM_000527.4(LDLR):c.1187-169_2312-790del
NM_000527.4(LDLR):c.1358+32C>T rs6413505
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1359-1G>C rs139617694
NM_000527.4(LDLR):c.1359-25A>G rs1131692206
NM_000527.4(LDLR):c.1359-27T>G rs1555805318
NM_000527.4(LDLR):c.1359-29G>A rs879254877
NM_000527.4(LDLR):c.1359-30C>T rs1003723
NM_000527.4(LDLR):c.1359-31G>A rs369781605
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-3C>T rs775657243
NM_000527.4(LDLR):c.1359-4T>C rs879254878
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.1359-6C>T rs746370607
NM_000527.4(LDLR):c.190+984_1846-1160del
NM_000527.4(LDLR):c.695-67_1586+371del
Single allele
c.1197_2205del
c.941-2966_*2583+4485del

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