ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.5(AIPL1):c.642+14G>A rs188779461
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.5(AIPL1):c.97-9G>A rs140124986

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