ClinVar Miner

List of variants in gene CEP250 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_007186.6(CEP250):c.5161C>T (p.Arg1721Cys) rs754782740 0.00092
NM_007186.6(CEP250):c.2669G>C (p.Arg890Thr) rs144024361 0.00036
NM_007186.6(CEP250):c.1301G>C (p.Arg434Thr) rs149028062 0.00032
NM_007186.6(CEP250):c.6162G>T (p.Gln2054His) rs368365512 0.00026
NM_007186.6(CEP250):c.482T>C (p.Met161Thr) rs140783729 0.00021
NM_007186.6(CEP250):c.2627C>T (p.Ala876Val) rs534168614 0.00018
NM_007186.6(CEP250):c.2953C>T (p.Arg985Trp) rs369079762 0.00018
NM_007186.6(CEP250):c.5926G>T (p.Ala1976Ser) rs367908520 0.00017
NM_007186.6(CEP250):c.4106C>T (p.Ala1369Val) rs142447631 0.00015
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His) rs138568893 0.00015
NM_007186.6(CEP250):c.1174C>T (p.Arg392Cys) rs370543710 0.00014
NM_007186.6(CEP250):c.4105G>A (p.Ala1369Thr) rs367939150 0.00014
NM_007186.6(CEP250):c.1412C>G (p.Ala471Gly) rs199644814 0.00011
NM_007186.6(CEP250):c.3256C>T (p.Arg1086Cys) rs143143244 0.00008
NM_007186.6(CEP250):c.5855C>G (p.Ser1952Cys) rs371486127 0.00008
NM_007186.6(CEP250):c.1463G>A (p.Arg488His) rs577762612 0.00007
NM_007186.6(CEP250):c.5572C>A (p.His1858Asn) rs200268845 0.00007
NM_007186.6(CEP250):c.796G>A (p.Glu266Lys) rs374878358 0.00007
NM_007186.6(CEP250):c.1256T>G (p.Leu419Trp) rs575668907 0.00006
NM_007186.6(CEP250):c.4148C>T (p.Thr1383Met) rs758095541 0.00006
NM_007186.6(CEP250):c.5963C>T (p.Ala1988Val) rs140286792 0.00006
NM_007186.6(CEP250):c.2758C>G (p.Gln920Glu) rs370665462 0.00005
NM_007186.6(CEP250):c.3257G>A (p.Arg1086His) rs745957253 0.00005
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val) rs199592435 0.00005
NM_007186.6(CEP250):c.5812C>T (p.Arg1938Trp) rs548722507 0.00005
NM_007186.6(CEP250):c.6169C>T (p.Arg2057Trp) rs149277986 0.00005
NM_007186.6(CEP250):c.6871C>T (p.Arg2291Cys) rs772146999 0.00005
NM_007186.6(CEP250):c.1159G>T (p.Ala387Ser) rs770666823 0.00004
NM_007186.6(CEP250):c.1610A>G (p.Glu537Gly) rs760339581 0.00004
NM_007186.6(CEP250):c.2456G>A (p.Arg819Gln) rs199866080 0.00004
NM_007186.6(CEP250):c.3815G>A (p.Arg1272His) rs770550852 0.00004
NM_007186.6(CEP250):c.3988C>T (p.Arg1330Trp) rs773111712 0.00004
NM_007186.6(CEP250):c.4069G>A (p.Val1357Met) rs761101944 0.00004
NM_007186.6(CEP250):c.5947C>T (p.His1983Tyr) rs1013360865 0.00004
NM_007186.6(CEP250):c.1675C>A (p.Leu559Met) rs201427125 0.00003
NM_007186.6(CEP250):c.2725C>T (p.Arg909Trp) rs769974123 0.00003
NM_007186.6(CEP250):c.3474C>A (p.Ser1158Arg) rs765946133 0.00003
NM_007186.6(CEP250):c.3499G>T (p.Ala1167Ser) rs201801448 0.00003
NM_007186.6(CEP250):c.6392C>T (p.Thr2131Ile) rs367689715 0.00003
NM_007186.6(CEP250):c.200G>A (p.Arg67Gln) rs754042296 0.00002
NM_007186.6(CEP250):c.5920C>T (p.His1974Tyr) rs762704919 0.00002
NM_007186.6(CEP250):c.1243G>T (p.Ala415Ser) rs568247716 0.00001
NM_007186.6(CEP250):c.1637G>A (p.Arg546Gln) rs776264848 0.00001
NM_007186.6(CEP250):c.2575C>T (p.Arg859Trp) rs557810123 0.00001
NM_007186.6(CEP250):c.2909A>C (p.Gln970Pro) rs762402549 0.00001
NM_007186.6(CEP250):c.3260A>G (p.Gln1087Arg) rs1041975486 0.00001
NM_007186.6(CEP250):c.3530A>C (p.Gln1177Pro) rs554606600 0.00001
NM_007186.6(CEP250):c.3628G>A (p.Ala1210Thr) rs750270883 0.00001
NM_007186.6(CEP250):c.3989G>A (p.Arg1330Gln) rs763131798 0.00001
NM_007186.6(CEP250):c.5975G>A (p.Arg1992His) rs760800311 0.00001
NM_007186.6(CEP250):c.598A>G (p.Arg200Gly) rs1423228104 0.00001
NM_007186.6(CEP250):c.6610C>T (p.Arg2204Trp) rs748555397 0.00001
NM_007186.6(CEP250):c.6691G>C (p.Gly2231Arg) rs747969822 0.00001
NM_007186.6(CEP250):c.6998C>T (p.Pro2333Leu) rs758278372 0.00001
NM_007186.6(CEP250):c.7085A>T (p.Gln2362Leu) rs562851586 0.00001
NM_007186.6(CEP250):c.1165A>G (p.Thr389Ala)
NM_007186.6(CEP250):c.1285G>A (p.Glu429Lys)
NM_007186.6(CEP250):c.1294G>A (p.Ala432Thr)
NM_007186.6(CEP250):c.1355T>G (p.Val452Gly)
NM_007186.6(CEP250):c.1381C>T (p.Leu461Phe)
NM_007186.6(CEP250):c.1562G>A (p.Arg521Lys)
NM_007186.6(CEP250):c.1567C>T (p.Arg523Cys)
NM_007186.6(CEP250):c.1619G>A (p.Ser540Asn)
NM_007186.6(CEP250):c.1702G>A (p.Ala568Thr)
NM_007186.6(CEP250):c.1883C>A (p.Ser628Tyr)
NM_007186.6(CEP250):c.2095T>A (p.Ser699Thr)
NM_007186.6(CEP250):c.241G>A (p.Gly81Arg)
NM_007186.6(CEP250):c.2687C>A (p.Thr896Lys)
NM_007186.6(CEP250):c.2926G>T (p.Ala976Ser)
NM_007186.6(CEP250):c.3233G>A (p.Arg1078Gln)
NM_007186.6(CEP250):c.3624C>G (p.Asp1208Glu)
NM_007186.6(CEP250):c.3659A>G (p.Gln1220Arg) rs2063913597
NM_007186.6(CEP250):c.3742C>G (p.Leu1248Val)
NM_007186.6(CEP250):c.4093G>C (p.Val1365Leu)
NM_007186.6(CEP250):c.4128C>G (p.Ile1376Met)
NM_007186.6(CEP250):c.4241C>T (p.Ala1414Val)
NM_007186.6(CEP250):c.4301A>G (p.Glu1434Gly)
NM_007186.6(CEP250):c.4454G>A (p.Cys1485Tyr)
NM_007186.6(CEP250):c.4547A>T (p.Asp1516Val) rs1568832361
NM_007186.6(CEP250):c.4573G>C (p.Glu1525Gln)
NM_007186.6(CEP250):c.4870G>C (p.Glu1624Gln)
NM_007186.6(CEP250):c.5014G>A (p.Asp1672Asn)
NM_007186.6(CEP250):c.5090G>A (p.Arg1697Gln) rs142095721
NM_007186.6(CEP250):c.5090G>C (p.Arg1697Pro) rs142095721
NM_007186.6(CEP250):c.5107A>T (p.Arg1703Trp) rs1293253583
NM_007186.6(CEP250):c.5141A>C (p.Lys1714Thr)
NM_007186.6(CEP250):c.5279A>T (p.Gln1760Leu) rs757335817
NM_007186.6(CEP250):c.5312T>G (p.Leu1771Arg)
NM_007186.6(CEP250):c.55G>C (p.Val19Leu)
NM_007186.6(CEP250):c.5606G>T (p.Arg1869Leu) rs375122917
NM_007186.6(CEP250):c.5644G>T (p.Val1882Phe)
NM_007186.6(CEP250):c.5684A>C (p.Glu1895Ala)
NM_007186.6(CEP250):c.5956G>A (p.Glu1986Lys)
NM_007186.6(CEP250):c.6073G>A (p.Glu2025Lys) rs1422976842
NM_007186.6(CEP250):c.6091C>T (p.Leu2031Phe)
NM_007186.6(CEP250):c.6203G>A (p.Arg2068Lys)
NM_007186.6(CEP250):c.628G>T (p.Val210Leu)
NM_007186.6(CEP250):c.6304A>G (p.Thr2102Ala)
NM_007186.6(CEP250):c.6460C>T (p.Arg2154Trp) rs375115331
NM_007186.6(CEP250):c.6827A>G (p.Gln2276Arg)
NM_007186.6(CEP250):c.683A>T (p.Gln228Leu)
NM_007186.6(CEP250):c.6885G>C (p.Gln2295His)
NM_007186.6(CEP250):c.6995C>T (p.Ser2332Leu)
NM_007186.6(CEP250):c.7114G>C (p.Asp2372His)
NM_007186.6(CEP250):c.7127G>A (p.Arg2376His) rs374274791
NM_007186.6(CEP250):c.73C>G (p.Leu25Val)
NM_007186.6(CEP250):c.769G>A (p.Glu257Lys)

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