ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.2557del (p.Val853fs)
NM_000527.5(LDLR):c.353A>C (p.Asp118Ala)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672

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