ClinVar Miner

List of variants in gene AIPL1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) rs142208422 0.00185
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) rs181630986 0.00006
NM_014336.5(AIPL1):c.373A>G (p.Asn125Asp) rs367592624 0.00002
NM_014336.5(AIPL1):c.453C>T (p.Ile151=) rs727503799 0.00001
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.1101T>C (p.Pro367=) rs886044608
NM_014336.5(AIPL1):c.146T>C (p.Ile49Thr) rs1172466966
NM_014336.5(AIPL1):c.864G>C (p.Gln288His) rs794727803
NM_014336.5(AIPL1):c.880G>C (p.Glu294Gln) rs727503801
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474

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