ClinVar Miner

List of variants reported as benign for Early myoclonic encephalopathy by Illumina Laboratory Services, Illumina

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Total variants: 15
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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 0.00623
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001191061.2(SLC25A22):c.*17A>C rs554507285 0.00013

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