List of variants in gene EPS8L2 reported as likely benign for not provided

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: 91

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HGVS	dbSNP	gnomAD frequency
NM_022772.4(EPS8L2):c.*378T>C	rs529321822	0.00108
NM_022772.4(EPS8L2):c.2145C>G (p.Ser715Arg)	rs201776164	0.00090
NM_022772.4(EPS8L2):c.895+5A>G	rs370435617	0.00066
NM_022772.4(EPS8L2):c.1060-6C>T	rs147136470	0.00065
NM_022772.4(EPS8L2):c.165+17A>C	rs199874167	0.00064
NM_022772.4(EPS8L2):c.769-10C>T	rs371342772	0.00050
NM_022772.4(EPS8L2):c.123C>T (p.Asn41=)	rs138277885	0.00041
NM_022772.4(EPS8L2):c.1681-8C>T	rs372782084	0.00023
NM_022772.4(EPS8L2):c.1143C>T (p.Arg381=)	rs201107272	0.00020
NM_022772.4(EPS8L2):c.165+10C>T	rs376112350	0.00018
NM_022772.4(EPS8L2):c.1170G>A (p.Ser390=)	rs148030605	0.00004
NM_022772.4(EPS8L2):c.1845G>A (p.Glu615=)	rs1466155395	0.00003
NM_022772.4(EPS8L2):c.735G>A (p.Arg245=)	rs1012881286	0.00003
NM_022772.4(EPS8L2):c.896-20C>T	rs1466373673	0.00003
NM_022772.4(EPS8L2):c.2082G>A (p.Gly694=)	rs757790289	0.00002
NM_022772.4(EPS8L2):c.1263C>T (p.Ser421=)	rs760933385	0.00001
NM_022772.4(EPS8L2):c.2067+9G>A	rs754179486	0.00001
NM_022772.4(EPS8L2):c.2136G>A (p.Gly712=)	rs757238187	0.00001
NM_022772.4(EPS8L2):c.701-14G>A	rs921493585	0.00001
NM_022772.4(EPS8L2):c.867G>A (p.Gly289=)	rs749109429	0.00001
NM_022772.4(EPS8L2):c.*429C>T
NM_022772.4(EPS8L2):c.*449G>A
NM_022772.4(EPS8L2):c.*551G>T
NM_022772.4(EPS8L2):c.100+19C>T
NM_022772.4(EPS8L2):c.1002C>T (p.His334=)
NM_022772.4(EPS8L2):c.101-8C>T
NM_022772.4(EPS8L2):c.1057C>T (p.Leu353=)
NM_022772.4(EPS8L2):c.1077T>C (p.Ser359=)
NM_022772.4(EPS8L2):c.1086C>T (p.Asp362=)
NM_022772.4(EPS8L2):c.1098C>T (p.Ser366=)
NM_022772.4(EPS8L2):c.1128C>T (p.Ala376=)
NM_022772.4(EPS8L2):c.1208+17C>A
NM_022772.4(EPS8L2):c.1212C>T (p.Ser404=)
NM_022772.4(EPS8L2):c.1221G>A (p.Pro407=)
NM_022772.4(EPS8L2):c.1221G>C (p.Pro407=)	rs146022380
NM_022772.4(EPS8L2):c.1338G>A (p.Glu446=)
NM_022772.4(EPS8L2):c.1341+11C>A
NM_022772.4(EPS8L2):c.1341+13G>A
NM_022772.4(EPS8L2):c.1342-17G>A	rs551881721
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)	rs369906914
NM_022772.4(EPS8L2):c.1455-8C>T	rs2133537224
NM_022772.4(EPS8L2):c.1482C>G (p.Ala494=)
NM_022772.4(EPS8L2):c.1527C>T (p.Asn509=)
NM_022772.4(EPS8L2):c.1533A>G (p.Leu511=)
NM_022772.4(EPS8L2):c.1560+7G>T
NM_022772.4(EPS8L2):c.1561-11G>A
NM_022772.4(EPS8L2):c.1563G>C (p.Val521=)
NM_022772.4(EPS8L2):c.166-5C>T
NM_022772.4(EPS8L2):c.166-9C>T
NM_022772.4(EPS8L2):c.1681-18C>A
NM_022772.4(EPS8L2):c.1743G>A (p.Gly581=)	rs777238086
NM_022772.4(EPS8L2):c.1896G>A (p.Glu632=)
NM_022772.4(EPS8L2):c.1917C>A (p.Ala639=)
NM_022772.4(EPS8L2):c.1926C>T (p.Phe642=)
NM_022772.4(EPS8L2):c.1934+10G>A
NM_022772.4(EPS8L2):c.1934+14G>T	rs1363086561
NM_022772.4(EPS8L2):c.1934+15G>A
NM_022772.4(EPS8L2):c.195C>T (p.Ser65=)
NM_022772.4(EPS8L2):c.2067+13G>C
NM_022772.4(EPS8L2):c.2067+18C>T
NM_022772.4(EPS8L2):c.2068-15A>G
NM_022772.4(EPS8L2):c.2068-15_2068-14insACCCCA
NM_022772.4(EPS8L2):c.2068-4C>G
NM_022772.4(EPS8L2):c.2132G>T (p.Arg711Met)	rs140464832
NM_022772.4(EPS8L2):c.216C>T (p.Asp72=)
NM_022772.4(EPS8L2):c.327+19G>A	rs2133522803
NM_022772.4(EPS8L2):c.33G>A (p.Pro11=)
NM_022772.4(EPS8L2):c.396C>T (p.Tyr132=)
NM_022772.4(EPS8L2):c.44+17A>G
NM_022772.4(EPS8L2):c.44+9T>C	rs1590045630
NM_022772.4(EPS8L2):c.441G>A (p.Lys147=)	rs2133524183
NM_022772.4(EPS8L2):c.561A>G (p.Gly187=)
NM_022772.4(EPS8L2):c.63C>T (p.Ser21=)
NM_022772.4(EPS8L2):c.701-10C>A
NM_022772.4(EPS8L2):c.759G>A (p.Glu253=)	rs1179556803
NM_022772.4(EPS8L2):c.768+10C>T
NM_022772.4(EPS8L2):c.769-9T>G	rs1477710931
NM_022772.4(EPS8L2):c.787C>T (p.Leu263=)
NM_022772.4(EPS8L2):c.813C>T (p.Ala271=)
NM_022772.4(EPS8L2):c.831C>T (p.Ala277=)
NM_022772.4(EPS8L2):c.855G>A (p.Gln285=)
NM_022772.4(EPS8L2):c.888G>A (p.Ala296=)
NM_022772.4(EPS8L2):c.895+18G>A
NM_022772.4(EPS8L2):c.895+22_895+71del	rs754719722
NM_022772.4(EPS8L2):c.895+7G>C
NM_022772.4(EPS8L2):c.903C>T (p.Val301=)
NM_022772.4(EPS8L2):c.913C>A (p.Arg305=)
NM_022772.4(EPS8L2):c.961A>G (p.Ile321Val)
NM_022772.4(EPS8L2):c.978C>T (p.Asn326=)
NM_022772.4(EPS8L2):c.984+8C>A
NM_022772.4(EPS8L2):c.991C>T (p.Leu331=)

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