ClinVar Miner

List of variants in gene ALG13 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr) rs774331771
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566

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