ClinVar Miner

List of variants reported as pathogenic for Jalili syndrome

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
CNNM4, 1-BP DUP, 1312C
CNNM4, 83-BP DEL, NT62
NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu) rs1574047454
NM_020184.4(CNNM4):c.1312del (p.Leu438fs) rs746879923
NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu) rs776159012
NM_020184.4(CNNM4):c.1547-1G>A rs1558993255
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter) rs1455470131
NM_020184.4(CNNM4):c.1682-1G>C rs879255500
NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter) rs80100937
NM_020184.4(CNNM4):c.1743C>G (p.Tyr581Ter) rs1432600424
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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