ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Bristol Genetics Laboratory, North Bristol NHS Trust and "pathogenic" from any submitter

Minimum review status of the submission from Bristol Genetics Laboratory, North Bristol NHS Trust: Collection method of the submission from Bristol Genetics Laboratory, North Bristol NHS Trust:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.24+1G>A rs1064795388
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142

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