ClinVar Miner

List of variants studied for Warburg micro syndrome 3 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_021252.5(RAB18):c.*2327T>C rs183252579 0.00679
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_021252.5(RAB18):c.*557G>A rs77758705 0.00432
NM_021252.5(RAB18):c.*741A>G rs114899806 0.00382
NM_021252.5(RAB18):c.*2974C>G rs532562164 0.00370
NM_021252.5(RAB18):c.*419G>A rs569311945 0.00253
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_021252.5(RAB18):c.*635G>A rs558244526 0.00193
NM_021252.5(RAB18):c.*254A>G rs75899834 0.00158
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_021252.5(RAB18):c.*3559C>T rs117041769 0.00129
NM_021252.5(RAB18):c.*402T>C rs555933024 0.00096
NM_021252.5(RAB18):c.*956A>C rs770434733 0.00082
NM_021252.5(RAB18):c.*3167G>A rs546186493 0.00052
NM_021252.5(RAB18):c.*1895G>C rs746613469 0.00045
NM_021252.5(RAB18):c.*1779A>T rs544225499 0.00043
NM_021252.5(RAB18):c.*946G>T rs561667494 0.00043
NM_021252.5(RAB18):c.*1136G>A rs753649409 0.00034
NM_021252.5(RAB18):c.*2242A>G rs186240753 0.00032
NM_021252.5(RAB18):c.*1047T>G rs983211187 0.00028
NM_021252.5(RAB18):c.*2302A>G rs190504134 0.00027
NM_021252.5(RAB18):c.*3543G>A rs747609242 0.00027
NM_021252.5(RAB18):c.*1110A>G rs79403948 0.00026
NM_021252.5(RAB18):c.*1141T>C rs751708158 0.00020
NM_021252.5(RAB18):c.*3729G>C rs530960985 0.00020
NM_021252.5(RAB18):c.*1842A>G rs758153438 0.00019
NM_021252.5(RAB18):c.*1845G>T rs186064414 0.00016
NM_021252.5(RAB18):c.*1502G>C rs767488036 0.00013
NM_021252.5(RAB18):c.*2862T>C rs767741672 0.00013
NM_021252.5(RAB18):c.*992C>A rs763254596 0.00013
NM_021252.4(RAB18):c.-144T>A rs780539442 0.00011
NM_021252.5(RAB18):c.*170T>C rs567179590 0.00011
NM_021252.5(RAB18):c.*2943A>G rs886046975 0.00010
NM_021252.5(RAB18):c.*3193C>T rs886046978 0.00010
NM_021252.5(RAB18):c.*4185G>A rs772242395 0.00010
NM_021252.5(RAB18):c.*3222C>T rs751337334 0.00009
NM_021252.5(RAB18):c.*3927A>G rs886046981 0.00007
NM_021252.5(RAB18):c.*1696T>A rs886046973 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_021252.5(RAB18):c.36C>A (p.Leu12=) rs61757825 0.00006
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) rs190213580 0.00006
NM_021252.5(RAB18):c.*2420C>A rs770379811 0.00005
NM_021252.5(RAB18):c.*764A>G rs749045175 0.00005
NM_021252.5(RAB18):c.*906A>G rs377745201 0.00005
NM_021252.5(RAB18):c.*3166C>T rs886046977 0.00004
NM_021252.5(RAB18):c.-41A>G rs770276006 0.00004
NM_021252.5(RAB18):c.*1452G>A rs1045270686 0.00003
NM_021252.5(RAB18):c.*3330G>C rs537665208 0.00003
NM_021252.5(RAB18):c.*382C>T rs886046971 0.00003
NM_021252.5(RAB18):c.*4008C>T rs538921321 0.00003
NM_021252.5(RAB18):c.*1943G>A rs560571679 0.00002
NM_021252.5(RAB18):c.*325C>G rs886046970 0.00002
NM_021252.5(RAB18):c.*3766C>A rs1414340838 0.00002
NM_021252.5(RAB18):c.*4038A>T rs746250477 0.00002
NM_021252.5(RAB18):c.*8G>A rs371434806 0.00002
NM_021252.5(RAB18):c.*1041A>G rs767104854 0.00001
NM_021252.5(RAB18):c.*1089C>A rs189434439 0.00001
NM_021252.5(RAB18):c.*1800A>G rs923872579 0.00001
NM_021252.5(RAB18):c.*2788C>T rs886046974 0.00001
NM_021252.5(RAB18):c.*3906G>A rs1473295756 0.00001
NM_021252.5(RAB18):c.*407G>T rs575299893 0.00001
NM_021252.5(RAB18):c.*560C>T rs1414516239 0.00001
NM_021252.5(RAB18):c.*62C>T rs886046969 0.00001
NM_021252.5(RAB18):c.*890G>A rs539207601 0.00001
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) rs1203985321 0.00001
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) rs886046967 0.00001
NM_021252.5(RAB18):c.68+10A>G rs886046965 0.00001
NM_021252.4(RAB18):c.-150G>A rs527459548
NM_021252.4(RAB18):c.-182G>A rs770568854
NM_021252.4(RAB18):c.-79T>A rs886046964
NM_021252.5(RAB18):c.*150C>A rs768390542
NM_021252.5(RAB18):c.*1589T>C rs1017507424
NM_021252.5(RAB18):c.*1680A>T rs886046972
NM_021252.5(RAB18):c.*2085A>C rs1834992154
NM_021252.5(RAB18):c.*2985T>G rs1835014857
NM_021252.5(RAB18):c.*3227A>G rs1835021406
NM_021252.5(RAB18):c.*3832C>A rs373663292
NM_021252.5(RAB18):c.*4039A>C rs886046982
NM_021252.5(RAB18):c.*822T>C rs1834959018
NM_021252.5(RAB18):c.*99C>T rs767920219
NM_021252.5(RAB18):c.270C>A (p.Val90=) rs750139202
NM_021252.5(RAB18):c.298G>C (p.Asp100His) rs748274360

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