ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1359-31G>A rs369781605 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1359-10C>T rs779530380 0.00001
NM_000527.5(LDLR):c.1359-13C>T rs886038307 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1359-29G>A rs879254877 0.00001
NC_000019.10:g.(?_11100213)_(11117013_?)del
NC_000019.10:g.(?_11111494)_(11113782_?)del
NC_000019.10:g.(?_11111504)_(11117013_?)del
NC_000019.10:g.(?_11113272)_(11120528_?)del
NM_000527.5(LDLR):c.1357_1359-37del rs1600726930
NM_000527.5(LDLR):c.1358+32C>T
NM_000527.5(LDLR):c.1359-13C>A
NM_000527.5(LDLR):c.1359-14T>G rs2077413900
NM_000527.5(LDLR):c.1359-14del
NM_000527.5(LDLR):c.1359-1G>C rs139617694
NM_000527.5(LDLR):c.1359-20C>T
NM_000527.5(LDLR):c.1359-26G>A rs2077413668
NM_000527.5(LDLR):c.1359-26_1359-23del
NM_000527.5(LDLR):c.1359-29G>C
NM_000527.5(LDLR):c.1359-30C>A
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1359-5C>T rs531005522
NM_000527.5(LDLR):c.1359-6C>A
NM_000527.5(LDLR):c.1359-6C>T

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