ClinVar Miner

List of variants in gene DGUOK reported by OMIM

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) rs104893631 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) rs879255617
NM_080916.3(DGUOK):c.255del (p.Ala86fs) rs886037613
NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) rs104893630
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.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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