ClinVar Miner

List of variants reported as benign for Jalili syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020184.4(CNNM4):c.*2120C>T rs12846 0.28467
NM_020184.4(CNNM4):c.*1244C>T rs7565577 0.10231
NM_020184.4(CNNM4):c.*91C>T rs7581456 0.10076
NM_020184.4(CNNM4):c.*1693G>A rs77892978 0.10049
NM_020184.4(CNNM4):c.*965A>G rs3731941 0.07687
NM_020184.4(CNNM4):c.*1990T>A rs7585552 0.03121
NM_020184.4(CNNM4):c.1824G>A (p.Pro608=) rs36121810 0.02587
NM_020184.4(CNNM4):c.*1482C>T rs10172803 0.02516
NM_020184.4(CNNM4):c.1947C>T (p.Ser649=) rs41286594 0.01520
NM_020184.4(CNNM4):c.*1516C>T rs116742732 0.01343
NM_020184.4(CNNM4):c.*560T>C rs74411759 0.00070

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