ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val) rs114956994 0.01512
NM_001017420.3(ESCO2):c.510G>A (p.Val170=) rs112031297 0.01021
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr) rs115144373 0.00421
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val) rs111667783 0.00348
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
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.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001017420.3(ESCO2):c.1674-4T>C rs750703352 0.00014
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
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.423G>C (p.Gln141His) rs147519828 0.00002
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=) rs1451610987 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 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.867A>G (p.Ser289=) rs535236969 0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) rs767444182 0.00001
NM_001017420.3(ESCO2):c.1013+1G>A rs1225195349
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) rs140062105
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=) rs554005632
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=) rs1585413228
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=) rs1804800125
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=) rs767762209
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=) rs780741900
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=) rs372611248
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427

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