ClinVar Miner

List of variants in gene combination LDLR, MIR6886 reported as uncertain significance for Familial hypercholesterolemia

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.1359-14del
NM_000527.5(LDLR):c.1359-26_1359-23del
NM_000527.5(LDLR):c.1359-30C>A
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876

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