List of variants in gene DHDDS reported as pathogenic for inborn disorder of amino acid metabolism

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	rs147394623	0.00015
NC_000001.10:g.(?_26757796)_(26764723_?)del
NC_000001.10:g.(?_26759437)_(26774171_?)del
NC_000001.10:g.(?_26764639)_(26764795_?)del
NC_000001.10:g.(?_26784272)_(26795632_?)del
NM_205861.3(DHDDS):c.100del (p.Asp34fs)
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	rs1553121072
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs)	rs2124425894
NM_205861.3(DHDDS):c.510dup (p.Trp171fs)	rs2124433466
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
NM_205861.3(DHDDS):c.517dup (p.Val173fs)	rs1272594778
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	rs1557447255
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)	rs1553122926
NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)
NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)	rs2124501559

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