ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 6
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HGVS dbSNP
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708

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