List of variants in gene CEP250 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_007186.6(CEP250):c.2889+28=	rs224373	0.87909
NM_007186.6(CEP250):c.1389-117=	rs224361	0.38844
NM_007186.6(CEP250):c.949-200=	rs224360	0.37370
NM_007186.6(CEP250):c.493-182=	rs224354	0.36795
NM_007186.6(CEP250):c.1572-232C>T	rs4911503	0.34166
NM_007186.6(CEP250):c.1051-212T>C	rs2281849	0.34160
NM_007186.6(CEP250):c.6907-47A>G	rs2236165	0.34157
NM_007186.6(CEP250):c.6907-191T>C	rs4281980	0.31760
NM_007186.6(CEP250):c.2586+190A>G	rs10439606	0.17871
NM_007186.6(CEP250):c.4322G>A (p.Arg1441Gln)	rs3748433	0.11335
NM_007186.6(CEP250):c.1863+58C>T	rs57616316	0.07740
NM_007186.6(CEP250):c.1571+41T>C	rs35395621	0.04566
NM_007186.6(CEP250):c.3945G>T (p.Leu1315=)	rs2274238	0.03486
NM_007186.6(CEP250):c.1863+81C>G	rs17092679	0.02437
NM_007186.6(CEP250):c.2889+65G>A	rs7263450	0.02383
NM_007186.6(CEP250):c.7065+86C>G	rs76529782	0.02383
NM_007186.6(CEP250):c.3656-244G>C	rs74327142	0.02382
NM_007186.6(CEP250):c.3167+198T>C	rs932551	0.02381
NM_007186.6(CEP250):c.5478G>A (p.Gln1826=)	rs17092712	0.02380
NM_007186.6(CEP250):c.3778-140A>G	rs116454922	0.02379
NM_007186.6(CEP250):c.3306+206A>G	rs74427159	0.02223
NM_007186.6(CEP250):c.1837G>T (p.Val613Phe)	rs74929920	0.01955
NM_007186.6(CEP250):c.3033+28A>G	rs115699391	0.00631
NM_007186.6(CEP250):c.3208G>A (p.Val1070Ile)
NM_007186.6(CEP250):c.3389C>A (p.Ala1130Glu)
NM_007186.6(CEP250):c.3656-1G>A
NM_007186.6(CEP250):c.493-62T>C	rs2296402
NM_007186.6(CEP250):c.6677G>A (p.Arg2226Gln)
NM_007186.6(CEP250):c.6751-48A>G	rs116453376

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