ClinVar Miner

List of variants in gene DGUOK studied for mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Included ClinVar conditions (3):
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Total variants: 48
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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.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.462T>A (p.Asn154Lys) rs144181978 0.00021
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.591G>A (p.Gln197=) rs748597500 0.00005
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.749T>C (p.Leu250Ser) rs749464475 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.425G>A (p.Arg142Lys) rs104893631 0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=) rs148915942 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_080916.3(DGUOK):c.705G>A (p.Thr235=) rs866403196 0.00001
NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg) rs1064794680
NM_080916.3(DGUOK):c.173T>C (p.Leu58Pro)
NM_080916.3(DGUOK):c.173_176del (p.Leu58fs)
NM_080916.3(DGUOK):c.214_215del (p.Val72fs)
NM_080916.3(DGUOK):c.255+3_255+6del
NM_080916.3(DGUOK):c.255del (p.Ala86fs) rs886037613
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) rs1553403624
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) rs587780587
NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) rs104893630
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_080916.3(DGUOK):c.384_385dup (p.Lys129fs)
NM_080916.3(DGUOK):c.444-62C>A rs528587600
NM_080916.3(DGUOK):c.505_508del (p.Tyr169fs)
NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) rs757043357
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) rs886037615
NM_080916.3(DGUOK):c.684C>G (p.Ala228=) rs1683176274
NM_080916.3(DGUOK):c.707+2T>G rs1573582059
NM_080916.3(DGUOK):c.707+3_707+6del
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) rs104893633
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) rs886037846

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