ClinVar Miner

Variants in gene combination ARX, LOC109610631 with conflicting interpretations reported as "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: 8
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HGVS dbSNP
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294
NM_139058.3(ARX):c.303A>G (p.Ala101=) rs797045295
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621

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