ClinVar Miner

List of variants in gene EIF2AK3 reported as pathogenic for not provided

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_004836.7(EIF2AK3):c.496C>T (p.Gln166Ter) rs755704498 0.00001
NM_004836.7(EIF2AK3):c.1216_1217del (p.Lys406fs)
NM_004836.7(EIF2AK3):c.1261_1262insTCTGTCACTAACGCAATTGGTA (p.Asn421delinsIleCysHisTer)
NM_004836.7(EIF2AK3):c.1474C>T (p.Arg492Ter)
NM_004836.7(EIF2AK3):c.1534A>T (p.Lys512Ter) rs2104429532
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs) rs797045558
NM_004836.7(EIF2AK3):c.1570_1573del (p.Lys523_Glu524insTer) rs1558652941
NM_004836.7(EIF2AK3):c.1578dup (p.Ala527fs)
NM_004836.7(EIF2AK3):c.1657A>T (p.Lys553Ter)
NM_004836.7(EIF2AK3):c.1694_1695del (p.Lys564_Tyr565insTer)
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)
NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln) rs121908569
NM_004836.7(EIF2AK3):c.1824del (p.Phe608fs)
NM_004836.7(EIF2AK3):c.1835del (p.Asn612fs)
NM_004836.7(EIF2AK3):c.1842_1845dup (p.Asp616delinsArgTer)
NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)
NM_004836.7(EIF2AK3):c.1943_1946dup (p.Gly650fs)
NM_004836.7(EIF2AK3):c.1999dup (p.Gln667fs)
NM_004836.7(EIF2AK3):c.2026A>T (p.Lys676Ter)
NM_004836.7(EIF2AK3):c.2128G>T (p.Glu710Ter)
NM_004836.7(EIF2AK3):c.2183del (p.Cys728fs)
NM_004836.7(EIF2AK3):c.2476C>T (p.Arg826Ter)
NM_004836.7(EIF2AK3):c.2546_2558del (p.Ser849fs)
NM_004836.7(EIF2AK3):c.262del (p.Arg88fs)
NM_004836.7(EIF2AK3):c.2636C>G (p.Ser879Ter) rs1674410575
NM_004836.7(EIF2AK3):c.266del (p.Gly89fs)
NM_004836.7(EIF2AK3):c.2699del (p.Met900fs)
NM_004836.7(EIF2AK3):c.2921del (p.Pro974fs)
NM_004836.7(EIF2AK3):c.3025_3029del (p.Ser1009fs)
NM_004836.7(EIF2AK3):c.3029T>G (p.Leu1010Ter)
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs) rs2104387177
NM_004836.7(EIF2AK3):c.3141T>A (p.Tyr1047Ter)
NM_004836.7(EIF2AK3):c.3150+1G>A
NM_004836.7(EIF2AK3):c.3193C>T (p.Arg1065Ter)
NM_004836.7(EIF2AK3):c.39_109del (p.Leu14fs)
NM_004836.7(EIF2AK3):c.495_498del (p.Asp165fs) rs2104445982
NM_004836.7(EIF2AK3):c.496_497inv (p.Gln166Ter)
NM_004836.7(EIF2AK3):c.627_628dup (p.Gly210fs)
NM_004836.7(EIF2AK3):c.88_139dup (p.Leu47fs)
NM_004836.7(EIF2AK3):c.989_990insT (p.Glu330fs)

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