ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center: Collection method of the submission from Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) rs200626873
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041

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