ClinVar Miner

List of variants in gene CEP250 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 74
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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.3307-20G>A rs117075109 0.02768
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.6750+6C>G rs76603816 0.01539
NM_007186.6(CEP250):c.3738C>T (p.His1246=) rs61998233 0.01538
NM_007186.6(CEP250):c.679G>A (p.Ala227Thr) rs115994448 0.01537
NM_007186.6(CEP250):c.2586+19C>T rs8118913 0.01440
NM_007186.6(CEP250):c.6951G>A (p.Ala2317=) rs61745969 0.01400
NM_007186.6(CEP250):c.2954G>A (p.Arg985Gln) rs75672673 0.01216
NM_007186.6(CEP250):c.3214C>G (p.Gln1072Glu) rs17092706 0.01205
NM_007186.6(CEP250):c.4782G>A (p.Thr1594=) rs41290924 0.01074
NM_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
NM_007186.6(CEP250):c.6211G>A (p.Glu2071Lys) rs61729986 0.00863
NM_007186.6(CEP250):c.5879G>A (p.Arg1960Gln) rs56259282 0.00743
NM_007186.6(CEP250):c.3033+28A>G rs115699391 0.00631
NM_007186.6(CEP250):c.6016G>A (p.Asp2006Asn) rs61729988 0.00621
NM_007186.6(CEP250):c.6358A>G (p.Asn2120Asp) rs61729985 0.00577
NM_007186.6(CEP250):c.3381G>A (p.Glu1127=) rs151074856 0.00574
NM_007186.6(CEP250):c.5570G>A (p.Arg1857His) rs73903079 0.00442
NM_007186.6(CEP250):c.6157C>T (p.His2053Tyr) rs57577046 0.00434
NM_007186.6(CEP250):c.2391C>T (p.Val797=) rs111853969 0.00357
NM_007186.6(CEP250):c.6150G>A (p.Glu2050=) rs114108181 0.00299
NM_007186.6(CEP250):c.6386A>G (p.His2129Arg) rs61729984 0.00185
NM_007186.6(CEP250):c.6611G>A (p.Arg2204Gln) rs188311566 0.00145
NM_007186.6(CEP250):c.2985A>T (p.Gln995His) rs2296403 0.00118
NM_007186.6(CEP250):c.4485C>T (p.Ala1495=) rs114039410 0.00090
NM_007186.6(CEP250):c.1827G>A (p.Ala609=) rs116246408 0.00061
NM_007186.6(CEP250):c.3237A>G (p.Gln1079=) rs61733772 0.00041
NM_007186.6(CEP250):c.6795G>A (p.Lys2265=) rs528180639 0.00027
NM_007186.6(CEP250):c.3469C>T (p.Arg1157Cys) rs77804973 0.00026
NM_007186.6(CEP250):c.1971G>A (p.Leu657=) rs373519159 0.00024
NM_007186.6(CEP250):c.3132C>T (p.Asn1044=) rs779632867 0.00018
NM_007186.6(CEP250):c.2274A>G (p.Gln758=) rs139485406 0.00017
NM_007186.6(CEP250):c.6114G>A (p.Gln2038=) rs756833778 0.00009
NM_007186.6(CEP250):c.1210-4A>G rs200428450 0.00007
NM_007186.6(CEP250):c.6522G>A (p.Gln2174=) rs202083340 0.00006
NM_007186.6(CEP250):c.2755-16C>G rs578203793 0.00004
NM_007186.6(CEP250):c.353C>T (p.Thr118Ile) rs369894925 0.00004
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser) rs201801448 0.00003
NM_007186.6(CEP250):c.6898T>C (p.Leu2300=) rs535604273 0.00001
NM_007186.6(CEP250):c.2586+12A>G rs764076037
NM_007186.6(CEP250):c.2755-14dup rs755773363
NM_007186.6(CEP250):c.3177= (p.Leu1059=)
NM_007186.6(CEP250):c.3402G>A (p.Thr1134=) rs140984394
NM_007186.6(CEP250):c.3526GCCCAG[4] (p.1176AQ[4]) rs561035032
NM_007186.6(CEP250):c.3604_3605delinsAT (p.Glu1202Met) rs2147110130
NM_007186.6(CEP250):c.3656-4dup
NM_007186.6(CEP250):c.3899-14CT[4] rs145805757
NM_007186.6(CEP250):c.3906= (p.Ser1302=)
NM_007186.6(CEP250):c.493-62T>C rs2296402
NM_007186.6(CEP250):c.5798C>A (p.Ala1933Glu) rs116637219
NM_007186.6(CEP250):c.665G>A (p.Arg222His) rs78174774
NM_007186.6(CEP250):c.6751-48A>G rs116453376
NM_007186.6(CEP250):c.936A>G (p.Thr312=) rs41290918

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