ClinVar Miner

List of variants in gene CENPJ studied for Seckel syndrome

Included ClinVar conditions (16):
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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.-98G>A
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862
NM_018451.5(CENPJ):c.1231C>T (p.Pro411Ser) rs145433187
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.1248T>C (p.Asp416=)
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712
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.1409C>T (p.Pro470Leu) rs142535552
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp)
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.5(CENPJ):c.2111C>T (p.Thr704Ile) rs768682361
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
NM_018451.5(CENPJ):c.221T>C (p.Leu74Pro)
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.2342C>T (p.Ser781Leu)
NM_018451.5(CENPJ):c.2344A>G (p.Arg782Gly)
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=) rs148738982
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.5(CENPJ):c.2658A>G (p.Glu886=)
NM_018451.5(CENPJ):c.2785A>G (p.Lys929Glu) rs141844033
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys)
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.5(CENPJ):c.2826-6T>C rs886050099
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.5(CENPJ):c.2896G>A (p.Glu966Lys)
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018451.5(CENPJ):c.3003G>A (p.Gln1001=) rs886050098
NM_018451.5(CENPJ):c.3004C>A (p.Gln1002Lys)
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165
NM_018451.5(CENPJ):c.3068G>A (p.Arg1023His) rs146950242
NM_018451.5(CENPJ):c.3105C>T (p.Asn1035=)
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys)
NM_018451.5(CENPJ):c.3216+7A>G rs9318917
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824
NM_018451.5(CENPJ):c.425T>C (p.Leu142Pro) rs886050102
NM_018451.5(CENPJ):c.444+3A>G rs587783411
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101
NM_018451.5(CENPJ):c.579A>C (p.Leu193Phe)
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543
NM_018451.5(CENPJ):c.739A>G (p.Thr247Ala) rs770285570
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292
NM_018451.5(CENPJ):c.777G>T (p.Ala259=) rs748696673
NM_018451.5(CENPJ):c.865+12dup rs202014808
NM_018451.5(CENPJ):c.865+8A>G
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454

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