ClinVar Miner

List of variants in gene ALG13 reported by Athena Diagnostics Inc

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Total variants: 14
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HGVS dbSNP
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1869C>T (p.His623=)
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
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.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.383+1029A>G rs139631003

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