ClinVar Miner

List of variants in gene ESPN reported as likely benign by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_031475.3(ESPN):c.2070G>A (p.Ser690=) rs142850918 0.00511
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup) rs761087054

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