List of variants in gene DSP reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)	rs1561686893
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)	rs761380979
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe)	rs1240326550
NM_004415.4(DSP):c.171T>A (p.Cys57Ter)	rs1758487010
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	rs1581805658
NM_004415.4(DSP):c.2907del (p.Ser970fs)	rs2113688929
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)	rs1759359916
NM_004415.4(DSP):c.4332dup (p.Gln1445fs)	rs1561698714
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)	rs2113694673
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs)	rs1561702549
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs)	rs2113701305
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter)	rs2113703930

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