ClinVar Miner

List of variants studied for familial hyperlipidemia by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.971G>T (p.Gly324Val)
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His) rs386629678

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