ClinVar Miner

List of variants in gene UMOD reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_003361.4(UMOD):c.1740+38C>T rs116674896 0.00897
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.1588_1589del (p.His529_Thr530insTer) rs1029064502
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr) rs398123698

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