ClinVar Miner

List of variants in gene ALG13 reported as likely benign for Epileptic encephalopathy, early infantile, 36

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Total variants: 44
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HGVS dbSNP
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His)
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=)
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=)
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102
NM_001099922.3(ALG13):c.2004C>T (p.His668=)
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala)
NM_001099922.3(ALG13):c.2754_2756ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[12] (p.Pro943_Pro945del)
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=)
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=)
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=)
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=)
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=)
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452
NM_001099922.3(ALG13):c.2797_2799CCT[10] (p.Pro943_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[15] (p.Pro944_Pro945dup)
NM_001099922.3(ALG13):c.2797_2799CCT[8] (p.Pro941_Pro945del)
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=)
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377
NM_001099922.3(ALG13):c.417T>C (p.Ile139=)
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg)
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.886-7T>C rs1556488604

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