ClinVar Miner

List of variants in gene UMPS reported as uncertain significance for not provided

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400 0.00058
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) rs201332523 0.00002
NM_000373.4(UMPS):c.617T>C (p.Phe206Ser) rs778507698 0.00001
NM_000373.4(UMPS):c.1324C>T (p.Arg442Ter)
NM_000373.4(UMPS):c.2T>C (p.Met1Thr) rs1229286305
NM_000373.4(UMPS):c.937C>T (p.Arg313Trp)
NM_000373.4(UMPS):c.983-2A>G rs1559906084

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