ClinVar Miner

List of variants in gene ESCO2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1353+119C>G rs117073800 0.01520
NM_001017420.3(ESCO2):c.54-51T>A rs79896359 0.01519
NM_001017420.3(ESCO2):c.1673+37A>G rs115427135 0.01506
NM_001017420.3(ESCO2):c.1354-227C>T rs117308787 0.01466
NM_001017420.3(ESCO2):c.1263+232G>A rs148517121 0.01416
NM_001017420.3(ESCO2):c.1353+108C>T rs138629233 0.01414
NM_001017420.3(ESCO2):c.1131+50G>C rs147574278 0.01324
NM_001017420.3(ESCO2):c.955+191A>G rs111416798 0.01004
NM_001017420.3(ESCO2):c.861+200A>G rs112451767 0.00995
NM_001017420.3(ESCO2):c.861+267C>T rs113358024 0.00992
NM_001017420.3(ESCO2):c.1131+322C>T rs138429482 0.00948
NM_001017420.3(ESCO2):c.861+170T>G rs150499257 0.00530
NM_001017420.3(ESCO2):c.1264-130T>C rs112928602 0.00322
NM_001017420.3(ESCO2):c.862-25G>T rs192719924 0.00171
NM_001017420.3(ESCO2):c.*34G>A rs182715200 0.00059
NM_001017420.3(ESCO2):c.1013+102dup rs200919382
NM_001017420.3(ESCO2):c.1132-288A>C rs149299120
NM_001017420.3(ESCO2):c.1354-292G>A rs115906199

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