ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University and "pathogenic" from OMIM

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: 15
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_014849.5(SV2A):c.865C>T (p.Arg289Ter)
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153

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