ClinVar Miner

List of variants studied for microcephaly with or without short stature by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.3216+7A>G rs9318917 0.80822
NM_018451.5(CPAP):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_018451.5(CPAP):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_018451.5(CPAP):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CPAP):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_018451.5(CPAP):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_018451.5(CPAP):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_018451.5(CPAP):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_018451.5(CPAP):c.3367-12T>C rs3742163 0.00421
NM_018451.5(CPAP):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_018451.5(CPAP):c.*570T>C rs139596189 0.00313
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_018451.5(CENPJ):c.*303C>A rs886050094 0.00157
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_018451.5(CPAP):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_018451.5(CENPJ):c.*556A>C rs188324716 0.00124
NM_018451.5(CPAP):c.1960G>A (p.Ala654Thr) rs140927921 0.00121
NM_018451.5(CPAP):c.2298T>A (p.Asp766Glu) rs79951875 0.00096
NM_018451.5(CPAP):c.2571C>G (p.Ser857Arg) rs78628025 0.00094
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_018451.5(CPAP):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.*779A>T rs183612636 0.00057
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_018451.5(CPAP):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CPAP):c.2785A>G (p.Lys929Glu) rs141844033 0.00046
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.*541T>C rs533142063 0.00034
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018451.5(CPAP):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_018451.5(CPAP):c.3960C>T (p.Ser1320=) rs113239817 0.00023
NM_018451.5(CPAP):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CENPJ):c.195C>T (p.Phe65=) rs775969767 0.00015
NM_018451.5(CENPJ):c.1603C>T (p.Arg535Trp) rs150608591 0.00014
NM_018451.5(CPAP):c.1231C>T (p.Pro411Ser) rs145433187 0.00014
NM_018451.5(CPAP):c.1430C>T (p.Thr477Met) rs193181742 0.00014
NM_018451.5(CPAP):c.2500C>T (p.Leu834=) rs148738982 0.00014
NM_018451.5(CENPJ):c.-98G>A rs551938674 0.00013
NM_018451.5(CPAP):c.3825-11A>T rs527946206 0.00012
NM_018451.5(CENPJ):c.*890T>C rs17480581 0.00011
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala) rs199925549 0.00011
NM_018451.5(CENPJ):c.3934G>A (p.Gly1312Ser) rs201508087 0.00010
NM_018451.5(CENPJ):c.*520A>G rs547113186 0.00009
NM_018451.5(CPAP):c.659C>T (p.Ser220Leu) rs201219786 0.00008
NM_018451.5(CENPJ):c.*721G>A rs755143149 0.00007
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(CPAP):c.865+8A>G rs373509972 0.00006
NM_018451.5(CENPJ):c.*206A>G rs1011088030 0.00004
NM_018451.5(CPAP):c.3068G>A (p.Arg1023His) rs146950242 0.00004
NM_018451.5(CENPJ):c.671C>T (p.Pro224Leu) rs566700308 0.00003
NM_018451.5(CPAP):c.4016G>A (p.Ter1339=) rs768167259 0.00003
NM_018451.5(CENPJ):c.*26C>T rs372867684 0.00002
NM_018451.5(CENPJ):c.*569A>G rs544072060 0.00002
NM_018451.5(CENPJ):c.1934G>A (p.Arg645His) rs773079639 0.00002
NM_018451.5(CENPJ):c.2791C>T (p.Arg931Cys) rs199749446 0.00002
NM_018451.5(CENPJ):c.3965G>A (p.Arg1322Gln) rs775936765 0.00002
NM_018451.5(CPAP):c.2111C>T (p.Thr704Ile) rs768682361 0.00002
NM_018451.5(CPAP):c.3618+7T>C rs769845659 0.00002
NM_018451.5(CENPJ):c.*124G>A rs886050097 0.00001
NM_018451.5(CENPJ):c.*292A>T rs886050095 0.00001
NM_018451.5(CENPJ):c.3159G>T (p.Trp1053Cys) rs751422006 0.00001
NM_018451.5(CENPJ):c.3350A>G (p.Asn1117Ser) rs768507623 0.00001
NM_018451.5(CENPJ):c.504A>G (p.Leu168=) rs886050101 0.00001
NM_018451.5(CPAP):c.1248T>C (p.Asp416=) rs542731735 0.00001
NM_018451.5(CPAP):c.3105C>T (p.Asn1035=) rs769070143 0.00001
NM_018451.5(CPAP):c.3654G>A (p.Thr1218=) rs765299653 0.00001
NM_018451.5(CENPJ):c.*267G>A rs886050096
NM_018451.5(CENPJ):c.*316G>A rs1953900248
NM_018451.5(CENPJ):c.*464A>G rs886050093
NM_018451.5(CENPJ):c.*593A>C rs1566274398
NM_018451.5(CENPJ):c.*783C>T rs886050092
NM_018451.5(CENPJ):c.-148C>T rs376883999
NM_018451.5(CENPJ):c.-24A>G rs780644943
NM_018451.5(CENPJ):c.1595C>T (p.Pro532Leu) rs371842504
NM_018451.5(CENPJ):c.2150C>T (p.Ser717Leu) rs886050100
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.3566C>A (p.Thr1189Asn) rs778219526
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3769C>G (p.Pro1257Ala) rs201774037
NM_018451.5(CENPJ):c.3943G>C (p.Glu1315Gln) rs761333511
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(CPAP):c.221T>C (p.Leu74Pro) rs563391686
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met) rs149855336
NM_018451.5(CPAP):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CPAP):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu) rs35498994

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