List of variants in gene EOGT reported as likely benign for bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 57

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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.621-14A>T	rs202028314	0.00062
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)	rs150080769	0.00038
NM_001278689.2(EOGT):c.516-9A>G	rs374408350	0.00023
NM_001278689.2(EOGT):c.1437+11A>G	rs377709151	0.00019
NM_001278689.2(EOGT):c.591A>G (p.Glu197=)	rs576952007	0.00014
NM_001278689.2(EOGT):c.300C>T (p.Val100=)	rs371677485	0.00013
NM_001278689.2(EOGT):c.421-7C>T	rs770810315	0.00009
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)	rs755939220	0.00008
NM_001278689.2(EOGT):c.624T>C (p.Phe208=)	rs371892977	0.00006
NM_001278689.2(EOGT):c.1215-18T>G	rs550137927	0.00005
NM_001278689.2(EOGT):c.421-19T>C	rs774998840	0.00005
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)	rs191230655	0.00004
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)	rs188086670	0.00003
NM_001278689.2(EOGT):c.515+7T>A	rs764750079	0.00003
NM_001278689.2(EOGT):c.516-8T>C	rs766271301	0.00003
NM_001278689.2(EOGT):c.620+16C>T	rs370215381	0.00003
NM_001278689.2(EOGT):c.728-7A>C	rs778701502	0.00003
NM_001278689.2(EOGT):c.312-20A>G	rs144575839	0.00002
NM_001278689.2(EOGT):c.1153-17T>G	rs538774454	0.00001
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)	rs758054412	0.00001
NM_001278689.2(EOGT):c.1214+16T>C	rs769801252	0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=)	rs750519290	0.00001
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=)	rs1575701273	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.495C>T (p.Asn165=)	rs763682959	0.00001
NM_001278689.2(EOGT):c.515+17T>C	rs540955313	0.00001
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)	rs761982280	0.00001
NM_001278689.2(EOGT):c.620+19A>T	rs574412438	0.00001
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)	rs779628950	0.00001
NM_001278689.2(EOGT):c.1084-8G>T	rs1251218119
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)	rs768193075
NM_001278689.2(EOGT):c.1152+14A>G
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=)	rs981266167
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)	rs2091525759
NM_001278689.2(EOGT):c.1437+15C>G	rs377724323
NM_001278689.2(EOGT):c.1438-8T>A
NM_001278689.2(EOGT):c.1446T>C (p.His482=)	rs2471373565
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)	rs2471373369
NM_001278689.2(EOGT):c.204A>G (p.Pro68=)
NM_001278689.2(EOGT):c.210+10A>C	rs1410315129
NM_001278689.2(EOGT):c.211-9A>G	rs2471640651
NM_001278689.2(EOGT):c.300C>G (p.Val100=)	rs371677485
NM_001278689.2(EOGT):c.311+12del	rs2471639258
NM_001278689.2(EOGT):c.312-10T>C	rs1559615651
NM_001278689.2(EOGT):c.357T>C (p.Ala119=)
NM_001278689.2(EOGT):c.421-16T>A	rs2471614330
NM_001278689.2(EOGT):c.421-6C>T	rs2091409901
NM_001278689.2(EOGT):c.45A>C (p.Ser15=)	rs2471650715
NM_001278689.2(EOGT):c.471C>A (p.Thr157=)	rs560607406
NM_001278689.2(EOGT):c.516-23_516-19del	rs373543747
NM_001278689.2(EOGT):c.618A>T (p.Ser206=)	rs373952598
NM_001278689.2(EOGT):c.621-14del	rs779286473
NM_001278689.2(EOGT):c.727+16T>G	rs2107336057
NM_001278689.2(EOGT):c.831+19T>A	rs2471555473

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