ClinVar Miner

List of variants in gene CEP164 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu) rs138384561 0.00042
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp) rs139225491 0.00025
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg) rs375085754 0.00023
NM_014956.5(CEP164):c.2669G>A (p.Arg890His) rs368178224 0.00023
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu) rs143370558 0.00018
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg) rs77118839 0.00018
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu) rs559070007 0.00017
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln) rs137987733 0.00011
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu) rs146456836 0.00011
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del) rs749738679 0.00009
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu) rs531161184 0.00009
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val) rs143919649 0.00009
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln) rs184333345 0.00008
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His) rs140470210 0.00007
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp) rs369446103 0.00007
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr) rs143693029 0.00007
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr) rs779345917 0.00006
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr) rs747800943 0.00006
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu) rs377394847 0.00006
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg) rs778958469 0.00005
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala) rs200571532 0.00005
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg) rs370039438 0.00005
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys) rs148650653 0.00005
NM_014956.5(CEP164):c.710C>A (p.Pro237His) rs567606919 0.00005
NM_014956.5(CEP164):c.1860A>T (p.Gln620His) rs745707423 0.00004
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys) rs375310104 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys) rs374437787 0.00004
NM_014956.5(CEP164):c.499G>A (p.Val167Met) rs748619597 0.00004
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met) rs202080477 0.00003
NM_014956.5(CEP164):c.3278+5_3278+8del rs929035130 0.00003
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu) rs75301270 0.00003
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala) rs757246851 0.00003
NM_014956.5(CEP164):c.765+3A>T rs1256710112 0.00003
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser) rs767609128 0.00003
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg) rs376214075 0.00003
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg) rs2042173742 0.00002
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu) rs773140295 0.00002
NM_014956.5(CEP164):c.2362-14G>A rs1035815151 0.00002
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala) rs750842640 0.00002
NM_014956.5(CEP164):c.3609+3G>A rs148009946 0.00002
NM_014956.5(CEP164):c.1226A>G (p.His409Arg) rs747489061 0.00001
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp) rs575328059 0.00001
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu) rs1324951273 0.00001
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln) rs573209223 0.00001
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr) rs943322658 0.00001
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe) rs923498039 0.00001
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln) rs763183525 0.00001
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp) rs201175046 0.00001
NM_014956.5(CEP164):c.2473G>A (p.Val825Met) rs373870559 0.00001
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His) rs774896440 0.00001
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp) rs986338516 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218 0.00001
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg) rs1416554475 0.00001
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln) rs752093126 0.00001
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn) rs562234273 0.00001
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His) rs758759503 0.00001
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr) rs769207410 0.00001
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys) rs753906680 0.00001
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp) rs769676851 0.00001
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln) rs769627423 0.00001
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys) rs757278608
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr) rs112527080
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg) rs758286092
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu) rs1053615798
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr) rs758890143
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val) rs763926600
NM_014956.5(CEP164):c.2519G>A (p.Arg840His) rs201901144
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly) rs374045323
NM_014956.5(CEP164):c.2834_2844+13dup rs765251449
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu) rs2045343660
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys) rs138487235
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys) rs375184395
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del) rs752854208
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg) rs143659874
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu) rs758693012
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser) rs769315243
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp) rs745904143
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.485G>A (p.Arg162His) rs139763142
NM_014956.5(CEP164):c.644_646del (p.Gly215del) rs759774330
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp) rs368668415

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