ClinVar Miner

List of variants in gene ESCO2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
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.50A>G (p.Asp17Gly) rs141013081 0.00027
NM_001017420.3(ESCO2):c.1547C>T (p.Thr516Met) rs201095039 0.00007
NM_001017420.3(ESCO2):c.247A>G (p.Thr83Ala) rs113305862 0.00005
NM_001017420.3(ESCO2):c.1279C>T (p.Arg427Cys) rs200548692 0.00004
NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile) rs199665460 0.00004
NM_001017420.3(ESCO2):c.1234C>T (p.His412Tyr) rs1431312891 0.00003
NM_001017420.3(ESCO2):c.250G>C (p.Val84Leu) rs371077886 0.00003
NM_001017420.3(ESCO2):c.23A>C (p.Lys8Thr) rs146504750 0.00002
NM_001017420.3(ESCO2):c.299A>G (p.Lys100Arg) rs777754051 0.00002
NM_001017420.3(ESCO2):c.1112C>A (p.Thr371Lys) rs199747189 0.00001
NM_001017420.3(ESCO2):c.1178G>A (p.Gly393Asp) rs1292000406 0.00001
NM_001017420.3(ESCO2):c.1312G>A (p.Val438Met) rs556131901 0.00001
NM_001017420.3(ESCO2):c.1452T>A (p.Asp484Glu) rs752376704 0.00001
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00001
NM_001017420.3(ESCO2):c.655C>T (p.Leu219Phe) rs758260823 0.00001
NM_001017420.3(ESCO2):c.713C>T (p.Ser238Leu) rs759999100 0.00001
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln) rs767444182 0.00001
NM_001017420.3(ESCO2):c.1014-6del rs2486654046
NM_001017420.3(ESCO2):c.1039G>C (p.Val347Leu)
NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del) rs80359859
NM_001017420.3(ESCO2):c.1128C>G (p.Ile376Met) rs140062105
NM_001017420.3(ESCO2):c.1151T>C (p.Phe384Ser) rs1319521332
NM_001017420.3(ESCO2):c.1159A>C (p.Thr387Pro)
NM_001017420.3(ESCO2):c.1199A>T (p.Asn400Ile) rs1263130603
NM_001017420.3(ESCO2):c.1431A>C (p.Lys477Asn)
NM_001017420.3(ESCO2):c.1614C>G (p.Ile538Met) rs1805381423
NM_001017420.3(ESCO2):c.1748T>C (p.Leu583Ser)
NM_001017420.3(ESCO2):c.1756A>G (p.Thr586Ala)
NM_001017420.3(ESCO2):c.224C>T (p.Ser75Leu) rs2128951065
NM_001017420.3(ESCO2):c.233A>G (p.Lys78Arg) rs2486626770
NM_001017420.3(ESCO2):c.290T>A (p.Leu97Gln) rs2486627033
NM_001017420.3(ESCO2):c.335C>T (p.Thr112Ile) rs754282679
NM_001017420.3(ESCO2):c.361A>T (p.Ile121Phe) rs1299289751
NM_001017420.3(ESCO2):c.812A>G (p.Lys271Arg) rs2486629314
NM_001017420.3(ESCO2):c.838A>G (p.Lys280Glu) rs2486629395
NM_001017420.3(ESCO2):c.856A>G (p.Ile286Val) rs2486629468
NM_001017420.3(ESCO2):c.863A>G (p.Asp288Gly) rs1324955909
NM_001017420.3(ESCO2):c.894A>T (p.Glu298Asp)
NM_001017420.3(ESCO2):c.929A>G (p.Glu310Gly)

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