ClinVar Miner

Variants in gene UMOD with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
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.1754C>T (p.Thr585Ile) rs111992415 0.00382
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00146
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203

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