ClinVar Miner

List of variants in gene CRTAP reported as benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=) rs1135128 0.36102
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=) rs1135127 0.36088
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448

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