ClinVar Miner

List of variants in gene CEP41 reported as likely benign for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_018718.3(CEP41):c.*1512C>T rs73721889 0.00689
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_018718.3(CEP41):c.*136T>G rs148305542 0.00287
NM_018718.3(CEP41):c.*4314T>C rs114939029 0.00286
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_018718.3(CEP41):c.*4594C>T rs151309255 0.00159
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397 0.00077
NM_018718.3(CEP41):c.*2481T>A rs528289176 0.00051
NM_018718.3(CEP41):c.*2896G>A rs147207980 0.00048
NM_018718.3(CEP41):c.*1534T>C rs149912245 0.00047
NM_018718.3(CEP41):c.*1567A>C rs139085191 0.00047
NM_018718.3(CEP41):c.423-18C>A rs371925259 0.00029
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_018718.3(CEP41):c.*392G>A rs528501184 0.00026
NM_018718.3(CEP41):c.757+12G>T rs377656524 0.00014
NM_018718.3(CEP41):c.*1336A>G rs781954428 0.00007
NM_018718.3(CEP41):c.1032C>T (p.Ser344=) rs189895981 0.00006
NM_018718.3(CEP41):c.957G>A (p.Gly319=) rs367931878 0.00006
NM_018718.3(CEP41):c.146-11A>G rs781817949 0.00005
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_018718.3(CEP41):c.213C>T (p.Ile71=) rs370498782 0.00004
NM_018718.3(CEP41):c.277+16G>C rs782272723 0.00004
NM_018718.3(CEP41):c.357G>A (p.Ser119=) rs1179996142 0.00004
NM_018718.3(CEP41):c.225C>T (p.Ser75=) rs1402831101 0.00003
NM_018718.3(CEP41):c.33+9C>G rs376019428 0.00003
NM_018718.3(CEP41):c.510C>T (p.Asp170=) rs782083906 0.00003
NM_018718.3(CEP41):c.643-6T>A rs782610948 0.00003
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn) rs782704307 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_018718.3(CEP41):c.1050T>G (p.Gly350=) rs374440977 0.00002
NM_018718.3(CEP41):c.205C>T (p.Leu69=) rs144793783 0.00002
NM_018718.3(CEP41):c.277+19G>A rs377242873 0.00002
NM_018718.3(CEP41):c.723G>A (p.Glu241=) rs782303641 0.00002
NM_018718.3(CEP41):c.1053C>T (p.Gly351=) rs782191360 0.00001
NM_018718.3(CEP41):c.146-18T>C rs202065857 0.00001
NM_018718.3(CEP41):c.165T>C (p.Asp55=) rs782085186 0.00001
NM_018718.3(CEP41):c.186A>G (p.Lys62=) rs1797202624 0.00001
NM_018718.3(CEP41):c.208-17A>G rs1374383852 0.00001
NM_018718.3(CEP41):c.384C>T (p.Asn128=) rs374535389 0.00001
NM_018718.3(CEP41):c.423-8A>G rs1796893817 0.00001
NM_018718.3(CEP41):c.643-12T>C rs782521409 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018718.3(CEP41):c.696C>T (p.Ala232=) rs1796819118 0.00001
NM_018718.3(CEP41):c.705G>A (p.Ala235=) rs149052906 0.00001
NM_018718.3(CEP41):c.741C>T (p.Leu247=) rs781822221 0.00001
NM_018718.3(CEP41):c.753C>T (p.Ser251=) rs200612684 0.00001
NM_018718.3(CEP41):c.973+11T>C rs781847285 0.00001
NM_018718.3(CEP41):c.973+15C>T rs979158941 0.00001
NM_018718.3(CEP41):c.974-8C>T rs367692258 0.00001
NM_018718.3(CEP41):c.102C>T (p.Asn34=) rs781793746
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
NM_018718.3(CEP41):c.1062C>T (p.Ala354=) rs782552317
NM_018718.3(CEP41):c.1080C>T (p.Arg360=) rs782746850
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
NM_018718.3(CEP41):c.145+16G>C
NM_018718.3(CEP41):c.145+16G>T rs2117627031
NM_018718.3(CEP41):c.145+7A>G
NM_018718.3(CEP41):c.146-13C>T rs782677555
NM_018718.3(CEP41):c.146-9A>G rs372039618
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
NM_018718.3(CEP41):c.208-5A>T
NM_018718.3(CEP41):c.208-6T>C
NM_018718.3(CEP41):c.208-7C>G rs782769113
NM_018718.3(CEP41):c.208-7C>T rs782769113
NM_018718.3(CEP41):c.258G>A (p.Glu86=) rs1309424611
NM_018718.3(CEP41):c.277+10del rs782128369
NM_018718.3(CEP41):c.277+17G>A
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-9A>C
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
NM_018718.3(CEP41):c.33+10A>G
NM_018718.3(CEP41):c.33+16C>T
NM_018718.3(CEP41):c.33+20C>A
NM_018718.3(CEP41):c.34-14del
NM_018718.3(CEP41):c.34-17A>G
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
NM_018718.3(CEP41):c.411A>G (p.Ser137=) rs1796949890
NM_018718.3(CEP41):c.423-4G>T rs1554417330
NM_018718.3(CEP41):c.423-9C>G
NM_018718.3(CEP41):c.438T>G (p.Val146=)
NM_018718.3(CEP41):c.468G>A (p.Val156=) rs1796891578
NM_018718.3(CEP41):c.513C>T (p.Cys171=) rs922629262
NM_018718.3(CEP41):c.574+7G>C
NM_018718.3(CEP41):c.575-19C>T
NM_018718.3(CEP41):c.643-16del rs2117556026
NM_018718.3(CEP41):c.643-7C>G
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
NM_018718.3(CEP41):c.705G>T (p.Ala235=) rs149052906
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
NM_018718.3(CEP41):c.757+16C>T
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
NM_018718.3(CEP41):c.831C>T (p.Ala277=) rs782120276
NM_018718.3(CEP41):c.867C>T (p.Pro289=) rs782385841
NM_018718.3(CEP41):c.954A>G (p.Gln318=) rs2117551629
NM_018718.3(CEP41):c.97+12T>G
NM_018718.3(CEP41):c.973+16C>A rs2117551370
NM_018718.3(CEP41):c.973+8del rs2117551461
NM_018718.3(CEP41):c.974-11G>T
NM_018718.3(CEP41):c.974-14C>T
NM_018718.3(CEP41):c.974-19TCTT[3]
NM_018718.3(CEP41):c.98-20A>G
NM_018718.3(CEP41):c.98-8C>A rs782606521
NM_018718.3(CEP41):c.98-8C>T
NM_018718.3(CEP41):c.999C>T (p.Ser333=)

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