ClinVar Miner

List of variants in gene CRTAP reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.922+100A>G rs4392367 0.79281
NM_006371.5(CRTAP):c.1068+305_1068+306insA rs11414035 0.75545
NM_006371.5(CRTAP):c.1068+303A>G rs62250517 0.75536
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.793+285T>C rs34649802 0.18113
NM_006371.5(CRTAP):c.472-107A>G rs4074416 0.18060
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_006371.5(CRTAP):c.472-683A>C rs4074417 0.18036
NM_006371.5(CRTAP):c.471+295A>G rs9841225 0.17622
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NC_000003.12:g.33113772T>G rs6809511 0.15427
NM_006371.5(CRTAP):c.1069-246C>A rs34970981 0.06657
NM_006371.5(CRTAP):c.*269C>T rs143237314 0.03228
NM_006371.5(CRTAP):c.794-291C>T rs149706640 0.02922
NM_006371.5(CRTAP):c.888C>T (p.Thr296=) rs13637 0.00524
NM_006371.5(CRTAP):c.622-16T>C rs147610884 0.00250
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006371.5(CRTAP):c.472-136C>A rs72857451
NM_006371.5(CRTAP):c.472-821_472-819del rs35015376
NM_006371.5(CRTAP):c.472-837dup rs5847773
NM_006371.5(CRTAP):c.472-839_472-837dup rs5847773
NM_006371.5(CRTAP):c.472-91A>G rs4074415
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.621+264A>C rs59622575

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