ClinVar Miner

List of variants in gene ESCO2 reported as likely benign by Natera, Inc.

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.1013+7A>G rs149494070 0.00074
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=) rs149917909 0.00036
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg) rs143828675 0.00019
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001017420.3(ESCO2):c.393C>T (p.Val131=) rs552661510 0.00005
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001017420.3(ESCO2):c.1674-9_1674-7del rs778526413 0.00003
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=) rs146523589 0.00003
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 0.00001
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=) rs774506097 0.00001
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=) rs201608468 0.00001
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile) rs897825817 0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) rs767444182 0.00001
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248

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