List of variants in gene CRTAP reported as uncertain significance by GeneDx

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.1039C>T (p.Leu347Phe)	rs115198029	0.00250
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)	rs201564256	0.00080
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)	rs202118861	0.00070
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)	rs201267683	0.00012
NM_006371.5(CRTAP):c.361C>T (p.Arg121Cys)	rs750500429	0.00006
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr)	rs145623565	0.00004
NM_006371.5(CRTAP):c.1090G>A (p.Val364Met)	rs2125604584
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)

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