ClinVar Miner

List of variants in gene ZEB1 studied for corneal disorder

Included ClinVar conditions (75):
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr) rs1577181 0.00096
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=) rs149166539 0.00082
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter) rs2139794959
NM_001174096.2(ZEB1):c.1579dup (p.Val527fs) rs766305306
NM_001174096.2(ZEB1):c.1586_1595del (p.Asp529fs)
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs) rs1592143384
NM_001174096.2(ZEB1):c.504del (p.Gln169fs) rs2069829602
NM_001174096.2(ZEB1):c.593A>C (p.Glu198Ala)
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter) rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter) rs1057518956

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