ClinVar Miner

List of variants in gene CENPJ studied for Seckel syndrome 4

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu) rs142535552 0.00058
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu) rs141844033 0.00046
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712 0.00020
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767 0.00015
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser) rs145433187 0.00014
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp) rs150608591 0.00014
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_018451.5(CENPJ):c.-98G>A rs551938674 0.00013
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu) rs201828176 0.00007
NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe) rs558449977 0.00006
NM_018451.5(CENPJ):c.865+8A>G rs373509972 0.00006
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys) rs192296063 0.00005
NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) rs146950242 0.00004
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308 0.00003
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639 0.00002
NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) rs768682361 0.00002
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys) rs199749446 0.00002
NM_018451.5(CENPJ):c.1248T>C (p.Asp416=) rs542731735 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.3105C>T (p.Asn1035=) rs769070143 0.00001
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys) rs751422006 0.00001
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101 0.00001
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1434del (p.Lys479fs) rs1954548327
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
NM_018451.5(CENPJ):c.221T>C (p.Leu74Pro) rs563391686
NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly) rs1409195287
NM_018451.5(CENPJ):c.2658A>G (p.Glu886=) rs1954501551
NM_018451.5(CENPJ):c.2826-6T>C rs886050099
NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys) rs752166766
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=) rs886050098
NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys) rs1954196857
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) rs886050102
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454

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