ClinVar Miner

List of variants in gene DNASE1L1, TAFAZZIN studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.109+5G>A
NM_000116.5(TAFAZZIN):c.109+8G>A
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
NM_000116.5(TAZ):c.-119= rs11388353

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