List of variants in gene ALDH18A1 reported as pathogenic for not provided

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	rs121434582	0.00002
NM_002860.4(ALDH18A1):c.1375C>T (p.Arg459Ter)	rs887933055	0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	rs748925635	0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)	rs758543218	0.00001
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)	rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	rs863225045
NM_002860.4(ALDH18A1):c.475C>T (p.Arg159Ter)
NM_002860.4(ALDH18A1):c.558+1G>A	rs2097882117
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670
NM_002860.4(ALDH18A1):c.809-1G>C	rs1202802893

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