ClinVar Miner

List of variants studied for Cardiomyopathy-hypotonia-lactic acidosis syndrome by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp) rs2097595072
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro) rs2097597579
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) rs104894375

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