ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341 0.00001
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576

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