ClinVar Miner

List of variants in gene ENG reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.67+5G>A rs763111216
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916

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