List of variants in gene SLC25A46 studied for central nervous system malformation

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)	rs746681765	0.00003
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile)	rs1057519296	0.00001
NM_138773.4(SLC25A46):c.691C>T (p.Arg231Ter)	rs751101419	0.00001
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro)	rs1057519294
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)	rs1064795772
NM_138773.4(SLC25A46):c.326+549_385-1240del
NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter)	rs771761288
NM_138773.4(SLC25A46):c.462+1G>A	rs1799819389
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)	rs1561602892
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)	rs1554093168
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs)	rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu)	rs1057518750

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