List of variants in gene CRTAP reported as pathogenic by OMIM

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)	rs72659361	0.00009
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)	rs863225043
NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)	rs387907333
NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs)
NM_006371.5(CRTAP):c.471+1G>C	rs72659359
NM_006371.5(CRTAP):c.472-1021C>G	rs72659360
NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter)	rs387907334
NM_006371.5(CRTAP):c.879del (p.Phe293fs)	rs72659362

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