List of variants in gene SLC25A12 reported as likely pathogenic for Developmental and epileptic encephalopathy, 39

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)	rs1553469156
NM_003705.5(SLC25A12):c.225del (p.Glu76fs)	rs1685036155
NM_003705.5(SLC25A12):c.326-2A>C	rs1573977142
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)	rs2105895501

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