ClinVar Miner

List of variants in gene CENPJ, RNF17 studied for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_018451.5(CENPJ):c.*124G>A rs886050097
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*292A>T rs886050095
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*303C>A rs886050094
NM_018451.5(CENPJ):c.*305_*307AAG[1] rs796638364
NM_018451.5(CENPJ):c.*398A>G rs11620289
NM_018451.5(CENPJ):c.*404C>T rs77868928
NM_018451.5(CENPJ):c.*404_*405CT[1] rs141666267
NM_018451.5(CENPJ):c.*464A>G rs886050093
NM_018451.5(CENPJ):c.*520A>G rs547113186
NM_018451.5(CENPJ):c.*541T>C rs533142063
NM_018451.5(CENPJ):c.*569A>G rs544072060
NM_018451.5(CENPJ):c.*570T>C rs139596189
NM_018451.5(CENPJ):c.*594_*595dup rs570468323
NM_018451.5(CENPJ):c.*639T>C rs61947515
NM_018451.5(CENPJ):c.*683dup rs397718122
NM_018451.5(CENPJ):c.*743_*746ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*779A>T rs183612636
NM_018451.5(CENPJ):c.*783C>T rs886050092
NM_018451.5(CENPJ):c.*83_*85del rs747303248
NM_018451.5(CENPJ):c.*890T>C rs17480581
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3367-12T>C rs3742163
NM_018451.5(CENPJ):c.3367-1G>A rs763715733
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018451.5(CENPJ):c.3618+7T>C rs769845659
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile) rs140564566
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln) rs761333511
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=) rs113239817

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