ClinVar Miner

List of variants in gene ESCO2 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001017420.3(ESCO2):c.*76_*79dup rs139887923 0.15273
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp) rs143539004 0.00080
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) rs143346057 0.00067
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu) rs202084183 0.00034
NM_001017420.3(ESCO2):c.*172G>C rs539459940 0.00028
NM_001017420.3(ESCO2):c.*915A>G rs867627204 0.00024
NM_001017420.3(ESCO2):c.*697G>C rs1016816951 0.00018
NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser) rs138646734 0.00016
NM_001017420.3(ESCO2):c.-17+15A>T rs886062857 0.00012
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr) rs143530690 0.00012
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.*770A>C rs773539224 0.00008
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val) rs201354290 0.00008
NM_001017420.3(ESCO2):c.*50T>C rs757615491 0.00005
NM_001017420.3(ESCO2):c.*534C>T rs886062871 0.00004
NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) rs199665460 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001017420.3(ESCO2):c.*222T>C rs886062868 0.00003
NM_001017420.3(ESCO2):c.*261T>A rs886062869 0.00002
NM_001017420.3(ESCO2):c.*538A>G rs1472702455 0.00002
NM_001017420.3(ESCO2):c.447A>G (p.Gln149=) rs886062858 0.00002
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=) rs587783623 0.00001
NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys) rs199638838 0.00001
NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln) rs754433579 0.00001
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969 0.00001
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=) rs184200865 0.00001
NM_001017420.3(ESCO2):c.*112AC[10] rs56062620
NM_001017420.3(ESCO2):c.*112AC[11] rs56062620
NM_001017420.3(ESCO2):c.*112AC[12] rs56062620
NM_001017420.3(ESCO2):c.*112AC[14] rs56062620
NM_001017420.3(ESCO2):c.*112AC[6] rs56062620
NM_001017420.3(ESCO2):c.*112AC[7] rs56062620
NM_001017420.3(ESCO2):c.*130delinsACACACACACA rs869163244
NM_001017420.3(ESCO2):c.*1397T>A rs1805526154
NM_001017420.3(ESCO2):c.*155T>G rs886062867
NM_001017420.3(ESCO2):c.*266C>T rs1805505685
NM_001017420.3(ESCO2):c.*481dup rs111395487
NM_001017420.3(ESCO2):c.*503GT[1] rs374900624
NM_001017420.3(ESCO2):c.*73_*76del rs533417099
NM_001017420.3(ESCO2):c.*80del rs886062863
NM_001017420.3(ESCO2):c.*982T>C rs886062872
NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del) rs80359859
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=) rs140062105
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=) rs1804800125
NM_001017420.3(ESCO2):c.53+8T>G rs1804771076
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=) rs587783624
NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala) rs1804808385
NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly) rs886062859
NM_001017420.3(ESCO2):c.955+10A>G rs1421884058
NM_001017420.3(ESCO2):c.955+7_955+8del rs555057427

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