ClinVar Miner

List of variants in gene UMOD reported as benign for cystic kidney disease

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_003361.4(UMOD):c.264C>T (p.Gly88=) rs77875418 0.02558
NM_003361.4(UMOD):c.*104C>T rs111699931 0.02416
NM_003361.4(UMOD):c.*130C>T rs113468667 0.01630
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_003361.4(UMOD):c.-56G>A rs79245268 0.00692
NM_003361.3(UMOD):c.-159G>A rs138793302 0.00187
NM_003361.4(UMOD):c.425G>A (p.Arg142Gln) rs199835347 0.00083
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.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_003361.4(UMOD):c.1124G>A (p.Arg375Gln) rs151061376 0.00021
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_003361.4(UMOD):c.1288G>A (p.Asp430Asn) rs200394184 0.00008
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.974-15C>G rs201798915 0.00006
NM_003361.4(UMOD):c.1177T>C (p.Leu393=) rs748849021 0.00004
NM_003361.4(UMOD):c.1376G>A (p.Arg459Gln) rs201761378 0.00004
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203

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