ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Genetics,Sultan Qaboos University Hospital, Oman and "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: 23
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HGVS dbSNP
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.4(CYP1B1):c.182G>A rs28936700
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_003122.4(SPINK1):c.199C>T (p.Arg67Cys) rs515726208
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199
NM_144696.6(AXDND1):c.3032-21A>T rs775006954

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