ClinVar Miner

List of variants in gene ESCO2 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs) rs80359867
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017420.3(ESCO2):c.1673+1G>A rs2128957692
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.416_430dup (p.Leu144Ter)
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) rs1554554098
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs) rs797045565
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs) rs797045566
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858

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