ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) by Illumina Laboratory Services, Illumina

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.*13A>T rs4777 0.57593
NM_080916.3(DGUOK):c.159G>A (p.Thr53=) rs62641680 0.01745
NM_080916.3(DGUOK):c.423G>A (p.Glu141=) rs1804599 0.01535
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553 0.00075
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_080916.3(DGUOK):c.-1G>A rs754623273 0.00010
NM_080916.3(DGUOK):c.-21G>T rs200333852 0.00010
NM_080916.3(DGUOK):c.-8T>C rs369681767 0.00010
NM_080916.3(DGUOK):c.*120G>A rs886056323 0.00009
NM_080916.3(DGUOK):c.655C>T (p.Leu219=) rs541642189 0.00005
NM_080916.3(DGUOK):c.*119C>T rs576927038 0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) rs141810774 0.00002
NM_080916.3(DGUOK):c.*7C>T rs749059686 0.00001
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787 0.00001
NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) rs138683121 0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=) rs148915942 0.00001
NM_080916.3(DGUOK):c.705G>A (p.Thr235=) rs866403196 0.00001
NM_080916.3(DGUOK):c.142+1G>T rs886056321
NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) rs757043357
NM_080916.3(DGUOK):c.684C>G (p.Ala228=) rs1683176274
NM_080916.3(DGUOK):c.9G>T (p.Ala3=) rs1306395752

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