ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "likely pathogenic" from Invitae

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_018668.5(VPS33B):c.96+1G>T rs1567232168 0.00001
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627

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