ClinVar Miner

List of variants in gene DNASE1L1, LOC130068869, TAFAZZIN studied for 3-Methylglutaconic aciduria type 2

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01005
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
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.100T>A (p.Phe34Ile) rs2522920277
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+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn) rs782245384
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val) rs12845698
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=) rs2068311070
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser) rs782316788
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=) rs2522918986
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser) rs1557190850
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=) rs1557190864
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile) rs2522918261
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.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter) rs1603376560
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile) rs2522919623
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs) rs2522919648
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.81G>T (p.Leu27Phe)
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg) rs2522920099
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=) rs1557190917
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys) rs2522920242
NM_000116.5(TAFAZZIN):c.93C>T (p.Tyr31=)
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
NM_000116.5(TAZ):c.-119= rs2522915552

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