List of variants in gene TOE1 reported as pathogenic for central nervous system malformation

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)	rs148067486	0.00003
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)	rs371848318	0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)	rs777030573	0.00001
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys)	rs1570621473
NM_025077.4(TOE1):c.940_941del (p.Gln314fs)	rs780563835
NM_025077.4(TOE1):c.957C>A (p.His319Gln)	rs758153898

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