ClinVar Miner

Variants in gene BCS1L 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: 9
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067 0.00132
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=) rs777854606 0.00027
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526

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