ClinVar Miner

List of variants in gene UMPS studied for not provided

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Gene type:
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Total variants: 34
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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.310+81A>G rs3772804 0.22443
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_000373.4(UMPS):c.*868del rs570945751 0.00329
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400 0.00058
NM_000373.4(UMPS):c.1296C>T (p.Tyr432=) rs755700171 0.00004
NM_000373.4(UMPS):c.498C>T (p.His166=) rs377094041 0.00004
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) rs201332523 0.00002
NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg) rs121917891 0.00001
NM_000373.4(UMPS):c.286A>G (p.Arg96Gly) rs121917890 0.00001
NM_000373.4(UMPS):c.336T>A (p.Thr112=) rs193220943 0.00001
NM_000373.4(UMPS):c.617T>C (p.Phe206Ser) rs778507698 0.00001
NM_000373.4(UMPS):c.636T>C (p.Asn212=) rs781482063 0.00001
NM_000373.4(UMPS):c.726G>A (p.Lys242=) rs764788989 0.00001
NM_000373.4(UMPS):c.768A>G (p.Leu256=) rs780392037 0.00001
NC_000003.12:g.124730083T>G rs2669919
NM_000373.4(UMPS):c.1092G>A (p.Gly364=)
NM_000373.4(UMPS):c.1146C>T (p.Tyr382=)
NM_000373.4(UMPS):c.1324C>T (p.Arg442Ter)
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) rs672601291
NM_000373.4(UMPS):c.210C>T (p.Thr70=) rs370656763
NM_000373.4(UMPS):c.2T>C (p.Met1Thr) rs1229286305
NM_000373.4(UMPS):c.670G>T (p.Glu224Ter) rs1559905153
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000373.4(UMPS):c.870dup (p.Thr291fs) rs1579131415
NM_000373.4(UMPS):c.937C>T (p.Arg313Trp)
NM_000373.4(UMPS):c.983-2A>G rs1559906084
NM_000373.4(UMPS):c.983-55C>G rs694897

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