ClinVar Miner

List of variants in gene combination DNASE1L1, LOC130068869, TAFAZZIN reported as likely benign for 3-Methylglutaconic aciduria type 2

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01005
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787 0.00002
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) rs781846964 0.00001
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=) rs1557190920
NM_000116.5(TAFAZZIN):c.109+15G>A rs781836148
NM_000116.5(TAFAZZIN):c.109+15del rs2522920518
NM_000116.5(TAFAZZIN):c.109+20G>A rs2522920606
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=) rs2068311070
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=) rs2522918986
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=) rs1557190864
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=) rs2522919325
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=) rs1290553565
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=) rs1557190917
NM_000116.5(TAFAZZIN):c.93C>T (p.Tyr31=)

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