ClinVar Miner

List of variants in gene combination DNASE1L1, TAFAZZIN reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.109+8G>A
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
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

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