ClinVar Miner

List of variants studied for Early myoclonic encephalopathy by Illumina Laboratory Services, Illumina

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001191061.2(SLC25A22):c.*453C>T rs4963153 0.38209
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_001191061.2(SLC25A22):c.*906G>A rs118051043 0.08987
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_001191061.2(SLC25A22):c.-163-868T>C rs111520133 0.06071
NM_001191061.2(SLC25A22):c.*1153C>T rs17156064 0.04015
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974 0.03661
NM_001191061.2(SLC25A22):c.-163-881C>T rs115490180 0.02548
NM_001191061.2(SLC25A22):c.*436C>T rs112476979 0.02124
NM_001191061.2(SLC25A22):c.-141G>A rs79919483 0.01938
NM_001191061.2(SLC25A22):c.*841A>T rs116673603 0.00811
NM_001191061.2(SLC25A22):c.*712T>C rs114476401 0.00732
NM_001191061.2(SLC25A22):c.*107G>A rs4963152 0.00380
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795 0.00248
NM_001191061.2(SLC25A22):c.*328C>T rs187161044 0.00195
NM_001191061.2(SLC25A22):c.-163-948C>T rs565178069 0.00178
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001191061.2(SLC25A22):c.*940T>C rs543726213 0.00132
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001191061.2(SLC25A22):c.*1431T>A rs529018067 0.00088
NM_001191061.2(SLC25A22):c.*1057C>A rs375049082 0.00067
NM_001191061.2(SLC25A22):c.*171G>A rs771093127 0.00064
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001191061.2(SLC25A22):c.*760G>A rs139397585 0.00046
NM_001191061.2(SLC25A22):c.743-12C>T rs200517971 0.00041
NM_001191061.2(SLC25A22):c.*753G>A rs544567754 0.00036
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001191061.2(SLC25A22):c.-163-989C>T rs753425944 0.00031
NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu) rs143064022 0.00024
NM_001191061.2(SLC25A22):c.*693G>C rs375467519 0.00022
NM_001191061.2(SLC25A22):c.*1301C>T rs575292705 0.00021
NM_001191061.2(SLC25A22):c.-163-901C>T rs963600903 0.00016
NM_001191061.2(SLC25A22):c.-163-947G>A rs374678084 0.00016
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903 0.00015
NM_001191061.2(SLC25A22):c.*1084C>G rs768779780 0.00014
NM_001191061.2(SLC25A22):c.-155T>C rs886048702 0.00014
NM_001191061.2(SLC25A22):c.742+9A>G rs370309722 0.00014
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) rs7124179 0.00013
NM_001191061.2(SLC25A22):c.-93C>G rs886048699 0.00011
NM_001191061.2(SLC25A22):c.*711G>A rs111723529 0.00010
NM_001191061.2(SLC25A22):c.-151G>A rs587781167 0.00009
NM_001191061.2(SLC25A22):c.413-12C>T rs587781169 0.00009
NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) rs768604742 0.00008
NM_001191061.2(SLC25A22):c.-163-898G>A rs886048704 0.00007
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) rs201574228 0.00007
NM_001191061.2(SLC25A22):c.*1277C>T rs191455128 0.00006
NM_001191061.2(SLC25A22):c.-163-917G>C rs868674335 0.00006
NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=) rs530935116 0.00006
NM_001191061.2(SLC25A22):c.-163-1027C>G rs886048705 0.00005
NM_001191061.2(SLC25A22):c.-163-1053T>G rs1222931354 0.00005
NM_001191061.2(SLC25A22):c.*17A>C rs554507285 0.00004
NM_001191061.2(SLC25A22):c.-130C>G rs886048700 0.00004
NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=) rs545592967 0.00004
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197 0.00004
NM_001191061.2(SLC25A22):c.-163-874G>A rs1334003817 0.00003
NM_001191061.2(SLC25A22):c.-72T>A rs533586625 0.00003
NM_001191061.2(SLC25A22):c.*1041C>T rs886048690 0.00002
NM_001191061.2(SLC25A22):c.-163-934C>T rs866357313 0.00002
NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=) rs559239495 0.00002
NM_001191061.2(SLC25A22):c.587+14G>A rs754046647 0.00002
NM_001191061.2(SLC25A22):c.*1000C>T rs1445247555 0.00001
NM_001191061.2(SLC25A22):c.*39C>T rs752899555 0.00001
NM_001191061.2(SLC25A22):c.*510A>G rs886048694 0.00001
NM_001191061.2(SLC25A22):c.*845T>A rs886048691 0.00001
NM_001191061.2(SLC25A22):c.*937G>A rs1344016618 0.00001
NM_001191061.2(SLC25A22):c.-163-15C>T rs886048703 0.00001
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp) rs780763318 0.00001
NM_001191061.2(SLC25A22):c.412+8C>T rs760438511 0.00001
NM_001191061.2(SLC25A22):c.463G>T (p.Gly155Cys) rs886048696 0.00001
NM_001191061.2(SLC25A22):c.819-3C>T rs141931491 0.00001
NM_001191061.2(SLC25A22):c.*1013C>A rs542204237
NM_001191061.2(SLC25A22):c.*1292T>C rs1864462584
NM_001191061.2(SLC25A22):c.*221C>G rs551904948
NM_001191061.2(SLC25A22):c.*746G>C rs576938612
NM_001191061.2(SLC25A22):c.*778G>A rs971863478
NM_001191061.2(SLC25A22):c.*810C>T rs886048692
NM_001191061.2(SLC25A22):c.-115C>T rs1864736207
NM_001191061.2(SLC25A22):c.-163-1026C>T rs868730118
NM_001191061.2(SLC25A22):c.-163-945G>C rs1864814802
NM_001191061.2(SLC25A22):c.-94C>G rs934844019
NM_001191061.2(SLC25A22):c.116A>G (p.Gln39Arg) rs1354157440
NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val) rs886048697
NM_001191061.2(SLC25A22):c.497C>G (p.Pro166Arg) rs1377963380
NM_001191061.2(SLC25A22):c.53C>T (p.Ala18Val) rs886048698
NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=) rs886048695
NM_001191061.2(SLC25A22):c.959A>G (p.Asp320Gly) rs1864541527

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