ClinVar Miner

Variants in gene ABRAXAS1 with conflicting interpretations "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: 8
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04289
NM_139076.3(ABRAXAS1):c.422C>T (p.Thr141Ile) rs150207999 0.00469
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala) rs138986552 0.00080
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=) rs367969368 0.00011
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=) rs201470211 0.00010
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=) rs769383568 0.00004
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115

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