List of variants in gene ATL1 reported as pathogenic by Paris Brain Institute, Inserm - ICM

Minimum submission review status:		Collection method:
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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)	rs864622269	0.00001
NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)	rs1555365597
NM_015915.5(ATL1):c.118G>T (p.Val40Phe)	rs2140201780
NM_015915.5(ATL1):c.1207del (p.Arg403fs)	rs2140239030
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)	rs2039539459
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)	rs119476050
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)	rs2140239163
NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)	rs2140239458
NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)	rs119476051
NM_015915.5(ATL1):c.575T>A (p.Leu192His)	rs2140209847
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)	rs119476049
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)	rs119476046
NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)	rs2140226894
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)	rs1595615134
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)	rs864622520

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