ClinVar Miner

List of variants studied for 3-Methylglutaconic aciduria type 2 by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)	rs794729166	0.00002
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)	rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)

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