ClinVar Miner

Variants in gene AIPL1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
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.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505 0.00045
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.900G>C (p.Ala300=) rs373590751 0.00005
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898 0.00002
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) rs369223841 0.00001
NM_014336.5(AIPL1):c.645G>A (p.Glu215=) rs1297434866 0.00001
NM_014336.5(AIPL1):c.939G>A (p.Ala313=) rs200401166 0.00001
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.970C>A (p.Arg324=) rs375096209
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) rs16955859

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