ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394

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