ClinVar Miner

List of variants in gene ALG13 reported as uncertain significance for not specified

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00004
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala) rs1238751751 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.1265G>T (p.Gly422Val) rs2148135895
NM_001099922.3(ALG13):c.923T>A (p.Leu308Gln) rs187825159
NM_001099922.3(ALG13):c.933-8C>T rs1556489533

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