ClinVar Miner

Variants in gene TAFAZZIN with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471

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