ClinVar Miner

List of variants in gene UMPS reported by Diasio Lab, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000373.3(UMPS):c.-28A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_000373.3(UMPS):c.-67T>C rs2279199 0.44281
NM_000373.4(UMPS):c.1274-52G>C rs3772807 0.25474
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) rs672601291
NM_000373.4(UMPS):c.983-55C>G rs694897

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