ClinVar Miner

List of variants studied for Jalili syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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CNNM4, 1-BP DUP, 1312C
CNNM4, 83-BP DEL, NT62
NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter) rs80100937
NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter) rs75559353
NM_020184.4(CNNM4):c.599C>A (p.Ser200Tyr) rs79424354
NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) rs75267011
NM_020184.4(CNNM4):c.971T>C (p.Leu324Pro) rs74552543

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