ClinVar Miner

List of variants in gene LRP6 studied for autosomal dominant polycystic liver disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002336.3(LRP6):c.4436C>T (p.Thr1479Ile) rs144175121 0.00038
NM_002336.3(LRP6):c.3130G>A (p.Asp1044Asn) rs140182370 0.00034
NM_002336.3(LRP6):c.2599A>G (p.Thr867Ala) rs141458215 0.00014
NM_002336.3(LRP6):c.4376C>G (p.Pro1459Arg) rs376248000 0.00004
NM_002336.3(LRP6):c.615C>A (p.Phe205Leu) rs148780507 0.00004
NM_002336.3(LRP6):c.1573C>G (p.Arg525Gly) rs1451948552 0.00001
NM_002336.3(LRP6):c.1426C>G (p.Leu476Val) rs2136988022
NM_002336.3(LRP6):c.1603A>G (p.Ile535Val) rs1862848708
NM_002336.3(LRP6):c.3025A>G (p.Ser1009Gly) rs2136915109
NM_002336.3(LRP6):c.458A>G (p.Tyr153Cys) rs2137042982

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