List of variants studied for Barth syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)	rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)	rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)	rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)	rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)	rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)	rs727504431
NM_000116.5(TAFAZZIN):c.700-1G>A	rs397515747
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)	rs727504394

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