ClinVar Miner

List of variants in gene EOGT reported as likely benign for Adams-Oliver syndrome 4

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086 0.00262
NM_001278689.2(EOGT):c.516-9A>G rs374408350 0.00021
NM_001278689.2(EOGT):c.591A>G (p.Glu197=) rs576952007 0.00014
NM_001278689.2(EOGT):c.300C>T (p.Val100=) rs371677485 0.00011
NM_001278689.2(EOGT):c.421-7C>T rs770810315 0.00009
NM_001278689.2(EOGT):c.624T>C (p.Phe208=) rs371892977 0.00006
NM_001278689.2(EOGT):c.515+7T>A rs764750079 0.00003
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290 0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=) rs778355816 0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=) rs771945573 0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=) rs1575699109 0.00001
NM_001278689.2(EOGT):c.1084-8G>T
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)
NM_001278689.2(EOGT):c.1153-17T>G
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.1214+16T>C
NM_001278689.2(EOGT):c.1215-18T>G
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)
NM_001278689.2(EOGT):c.1437+11A>G
NM_001278689.2(EOGT):c.1437+15C>G
NM_001278689.2(EOGT):c.1446T>C (p.His482=)
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)
NM_001278689.2(EOGT):c.210+10A>C rs1410315129
NM_001278689.2(EOGT):c.211-9A>G
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)
NM_001278689.2(EOGT):c.300C>G (p.Val100=)
NM_001278689.2(EOGT):c.311+12del
NM_001278689.2(EOGT):c.312-10T>C rs1559615651
NM_001278689.2(EOGT):c.312-20A>G
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)
NM_001278689.2(EOGT):c.421-16T>A
NM_001278689.2(EOGT):c.421-19T>C
NM_001278689.2(EOGT):c.421-6C>T
NM_001278689.2(EOGT):c.45A>C (p.Ser15=)
NM_001278689.2(EOGT):c.471C>A (p.Thr157=) rs560607406
NM_001278689.2(EOGT):c.495C>T (p.Asn165=)
NM_001278689.2(EOGT):c.515+17T>C
NM_001278689.2(EOGT):c.516-23_516-19del rs373543747
NM_001278689.2(EOGT):c.516-8T>C
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)
NM_001278689.2(EOGT):c.618A>T (p.Ser206=) rs373952598
NM_001278689.2(EOGT):c.620+16C>T
NM_001278689.2(EOGT):c.620+19A>T
NM_001278689.2(EOGT):c.621-14A>T
NM_001278689.2(EOGT):c.621-14del
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)
NM_001278689.2(EOGT):c.727+16T>G
NM_001278689.2(EOGT):c.728-7A>C
NM_001278689.2(EOGT):c.831+19T>A

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