ClinVar Miner

Variants in gene B3GLCT 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: 7
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_194318.4(B3GLCT):c.71-5del rs398022187

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