List of variants in gene SLC25A4 reported as pathogenic for mitochondrial DNA depletion syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	rs121912683	0.00001
NM_001151.4(SLC25A4):c.111+1G>A	rs398122942
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs)	rs886041080
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)	rs886041081
NM_001151.4(SLC25A4):c.523del (p.Gln175fs)	rs863224209
NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly)	rs886041082
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)	rs770816416

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