ClinVar Miner

Variants in gene BARD1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000465.4(BARD1):c.1568+5G>A
NM_000465.4(BARD1):c.1569-7T>G rs1559395026
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser) rs1060501308
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155

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