ClinVar Miner

List of variants in gene UMOD reported as likely pathogenic for not provided

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003361.4(UMOD):c.104G>A (p.Cys35Tyr) rs1555487726
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1412C>G (p.Pro471Arg) rs2141648298
NM_003361.4(UMOD):c.188G>T (p.Cys63Phe)
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser) rs1567311279
NM_003361.4(UMOD):c.230G>C (p.Cys77Ser) rs121917768
NM_003361.4(UMOD):c.254A>G (p.Asn85Ser) rs1057522004
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys) rs750535100
NM_003361.4(UMOD):c.269T>G (p.Phe90Cys)
NM_003361.4(UMOD):c.358T>C (p.Cys120Arg)
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.588C>G (p.Asp196Glu)
NM_003361.4(UMOD):c.604T>C (p.Trp202Arg)
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.706C>A (p.Pro236Thr)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys) rs1567309582
NM_003361.4(UMOD):c.817G>T (p.Val273Phe) rs121917774

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