ClinVar Miner

Variants in gene combination ARX, LOC109610631 with conflicting interpretations reported as "benign and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510

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