ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Genetics,Sultan Qaboos University Hospital, Oman and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200

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