List of variants in gene CRTAP reported as benign for Osteogenesis imperfecta type 7

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: 34

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HGVS	dbSNP	gnomAD frequency
NM_006371.5(CRTAP):c.*1858T>A	rs4678476	0.93106
NM_006371.5(CRTAP):c.*3485G>A	rs1132392	0.45631
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.*2416T>C	rs1127898	0.27685
NM_006371.5(CRTAP):c.*1467G>A	rs4678475	0.24367
NM_006371.5(CRTAP):c.534C>T (p.Asp178=)	rs4076086	0.18059
NM_006371.5(CRTAP):c.213G>A (p.Leu71=)	rs11558338	0.15448
NM_006371.5(CRTAP):c.*2147A>G	rs4355234	0.13787
NM_006371.5(CRTAP):c.*3142G>A	rs12635415	0.13012
NM_006371.5(CRTAP):c.*1582C>A	rs1137463	0.11766
NM_006371.5(CRTAP):c.*4774C>T	rs11925558	0.06783
NM_006371.5(CRTAP):c.*3949C>T	rs72859106	0.05162
NM_006371.5(CRTAP):c.*4256A>G	rs56401432	0.04639
NM_006371.5(CRTAP):c.*3793C>T	rs72859105	0.04635
NM_006371.5(CRTAP):c.*2901G>C	rs72857502	0.04627
NM_006371.5(CRTAP):c.*1919A>G	rs4429578	0.04291
NM_006371.5(CRTAP):c.*269C>T	rs143237314	0.03228
NM_006371.5(CRTAP):c.*3005G>A	rs114186675	0.02392
NM_006371.5(CRTAP):c.*3243A>C	rs114378448	0.02306
NM_006371.5(CRTAP):c.*3145A>G	rs74503694	0.01992
NM_006371.5(CRTAP):c.*777C>A	rs116759530	0.01795
NM_006371.5(CRTAP):c.*4623A>C	rs75873340	0.01770
NM_006371.5(CRTAP):c.*982A>G	rs78409158	0.00708
NM_006371.5(CRTAP):c.*3464A>C	rs144325894	0.00619
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.732C>T (p.Leu244=)	rs149119710	0.00178
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	rs146124454	0.00061
NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn)	rs571617130	0.00001
NM_006371.5(CRTAP):c.*2628G>A	rs115744599
NM_006371.5(CRTAP):c.*3891C>T	rs4678478
NM_006371.5(CRTAP):c.558A>G (p.Ala186=)	rs35357409
NM_006371.5(CRTAP):c.623G>A (p.Ser208Asn)	rs574565076

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