ClinVar Miner

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

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_003361.4(UMOD):c.599G>A (p.Arg200His) rs940287917 0.00013
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn) rs769398465 0.00009
NM_003361.4(UMOD):c.*88G>A rs547514548 0.00004
NM_003361.4(UMOD):c.685A>T (p.Met229Leu) rs756226236 0.00004
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr) rs147199402 0.00004
NM_003361.4(UMOD):c.*59G>A rs886051783 0.00003
NM_003361.4(UMOD):c.1360G>A (p.Gly454Ser) rs774173431 0.00002
NM_003361.4(UMOD):c.1459G>A (p.Val487Met) rs375158769 0.00002
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln) rs780358900 0.00002
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu) rs200473249 0.00002
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) rs751927256 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_003361.4(UMOD):c.*262C>G rs1422710573 0.00001
NM_003361.4(UMOD):c.*39C>T rs770789937 0.00001
NM_003361.4(UMOD):c.1131G>C (p.Trp377Cys) rs201738891 0.00001
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter) rs373412017 0.00001
NM_003361.4(UMOD):c.472G>A (p.Gly158Arg) rs1239315488 0.00001
NM_003361.4(UMOD):c.808G>A (p.Gly270Ser) rs781101544 0.00001
NM_003361.4(UMOD):c.*226_*229del rs886051782
NM_003361.4(UMOD):c.*231A>G rs886051781
NM_003361.4(UMOD):c.-57C>T rs767217667
NM_003361.4(UMOD):c.1093C>T (p.Arg365Trp)
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp) rs138178893
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro) rs1245943973
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp) rs762973149
NM_003361.4(UMOD):c.1182+5G>T rs755374625
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
NM_003361.4(UMOD):c.1195del (p.His399fs) rs780493255
NM_003361.4(UMOD):c.1372G>A (p.Val458Met)
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.139G>A (p.Val47Ile) rs917737950
NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys) rs1965189208
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
NM_003361.4(UMOD):c.1859dup (p.Leu620fs) rs886051784
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys) rs1965761636
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
NM_003361.4(UMOD):c.480C>T (p.Asp160=) rs1965738932
NM_003361.4(UMOD):c.529C>T (p.His177Tyr)
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) rs794727496
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.698G>T (p.Gly233Val) rs1965720354
NM_003361.4(UMOD):c.725T>A (p.Ile242Asn)
NM_003361.4(UMOD):c.768C>G (p.Cys256Trp) rs774838407
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile) rs769806862
NM_003361.4(UMOD):c.799T>C (p.Cys267Arg)
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) rs766919534
NM_003361.4(UMOD):c.859T>C (p.Cys287Arg)
NM_003361.4(UMOD):c.865+7C>G rs759063012
NM_003361.4(UMOD):c.895G>A (p.Glu299Lys) rs1965696937
NM_003361.4(UMOD):c.998T>C (p.Leu333Pro) rs1965583936

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