ClinVar Miner

List of variants in gene EIF2S3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001415.4(EIF2S3):c.306T>C (p.Tyr102=) rs370164270 0.00012
NM_001415.4(EIF2S3):c.912T>C (p.Asp304=) rs144487129 0.00010
NM_001415.4(EIF2S3):c.675A>G (p.Ser225=) rs778615116 0.00001
NM_001415.4(EIF2S3):c.289C>T (p.Pro97Ser) rs1569277729
NM_001415.4(EIF2S3):c.383+3G>A
NM_001415.4(EIF2S3):c.797A>T (p.Lys266Ile) rs1602044595

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