ClinVar Miner

List of variants in gene ALG13 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu) rs1404395085 0.00010
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=) rs891310320 0.00002
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=) rs758300150 0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro) rs1220905347 0.00001
NM_001099922.3(ALG13):c.1211A>C (p.Glu404Ala) rs1569517608
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.274A>G (p.Lys92Glu)
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.3312A>G (p.Ala1104=) rs1487734085
NM_001099922.3(ALG13):c.354A>G (p.Lys118=) rs1569510723

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