ClinVar Miner

Variants in gene ABRAXAS1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely 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 gnomAD frequency
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs) rs764429803 0.00031
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu) rs773812911 0.00029
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser) rs376489465 0.00014
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190 0.00007
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly) rs142910445 0.00004
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln) rs138594808 0.00001
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del) rs748475674
NM_139076.3(ABRAXAS1):c.88-7T>C

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