ClinVar Miner

List of variants reported as benign for Barth syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
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.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471

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