ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_002635.4(SLC25A3):c.158-237G>A rs104894375
NM_002635.4(SLC25A3):c.158-303A>G rs745305932
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp)
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro)

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