ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.6744A>G (p.Gln2248=) rs142772503 0.00026
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr) rs201404524 0.00005
NM_001384732.1(CPLANE1):c.2182C>G (p.Pro728Ala) rs1467926733 0.00001
NM_001384732.1(CPLANE1):c.4739T>C (p.Phe1580Ser) rs1027538017 0.00001
NM_001384732.1(CPLANE1):c.4997A>T (p.Asn1666Ile) rs748543409 0.00001
NM_001384732.1(CPLANE1):c.3626A>C (p.Gln1209Pro) rs762591555

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