ClinVar Miner

List of variants in gene EML1 reported as pathogenic for band heterotopia of brain

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004434.3(EML1):c.412C>T (p.Arg138Ter) rs886037935 0.00001
NM_004434.3(EML1):c.1567C>T (p.Arg523Ter) rs1555404109
NM_004434.3(EML1):c.1820+1G>C rs2060059941
NM_004434.3(EML1):c.673T>C (p.Trp225Arg) rs886037937
NM_004434.3(EML1):c.727A>G (p.Thr243Ala) rs886037936

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