ClinVar Miner

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

Minimum review status of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University: Collection method of the submission from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_000044.6(AR):c.1846C>T (p.Arg616Cys) rs1555990485
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000426.4(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_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del) rs767004810
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048

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