List of variants in gene combination NEB, RIF1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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: 78

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.*212T>C	rs1061317	0.00811
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)	rs192402741	0.00334
NM_001164508.2(NEB):c.*201A>T	rs190132249	0.00311
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)	rs78592085	0.00208
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)	rs201979610	0.00182
NM_001164508.2(NEB):c.22800+9A>G	rs144303545	0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	rs143602832	0.00177
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)	rs34718443	0.00165
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)	rs185574478	0.00145
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)	rs193224180	0.00140
NM_001164508.2(NEB):c.24874-8C>T	rs200902944	0.00134
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)	rs201825451	0.00123
NM_001164508.2(NEB):c.*57C>T	rs566096042	0.00111
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	rs201767727	0.00108
NM_001164508.2(NEB):c.21840+13A>C	rs75515097	0.00104
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)	rs201400523	0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)	rs184319249	0.00069
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)	rs765789028	0.00044
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)	rs201419564	0.00038
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)	rs189609282	0.00037
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)	rs373946758	0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	rs142454476	0.00035
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)	rs201688876	0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)	rs370873040	0.00029
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)	rs199937246	0.00018
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)	rs367626762	0.00016
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)	rs372808358	0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)	rs201976154	0.00014
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)	rs202137113	0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)	rs551649582	0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	rs373551215	0.00011
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)	rs117861109	0.00010
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.23127+4G>A	rs764457781	0.00007
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)	rs372284984	0.00006
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)	rs140982447	0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)	rs201548700	0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)	rs374941096	0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)	rs372699411	0.00006
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)	rs186686151	0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)	rs770713773	0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)	rs369514998	0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)	rs760905651	0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	rs201291446	0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)	rs778972474	0.00004
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)	rs200250294	0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)	rs539800267	0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)	rs766321668	0.00003
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)	rs772803200	0.00003
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)	rs886054926	0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)	rs561904743	0.00002
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)	rs542706227	0.00002
NM_001164508.2(NEB):c.*36C>T	rs773628949	0.00001
NM_001164508.2(NEB):c.*95G>A	rs2049714734	0.00001
NM_001164508.2(NEB):c.22272+7T>C	rs762551492	0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala)	rs886054928	0.00001
NM_001164508.2(NEB):c.22502A>G (p.Asp7501Gly)	rs771620082	0.00001
NM_001164508.2(NEB):c.22801-7T>C	rs368298970	0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly)	rs776739582	0.00001
NM_001164508.2(NEB):c.22970C>T (p.Thr7657Met)	rs770889470	0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=)	rs149606244	0.00001
NM_001164508.2(NEB):c.23024A>T (p.Tyr7675Phe)	rs1284363805	0.00001
NM_001164508.2(NEB):c.23127+2T>C	rs112610938	0.00001
NM_001164508.2(NEB):c.24449T>C (p.Met8150Thr)	rs774559645	0.00001
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)	rs781388562	0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)	rs763433145	0.00001
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)	rs766943894	0.00001
NM_001164507.2(NEB):c.21316A>G (p.Lys7106Glu)	rs2092606329
NM_001164508.2(NEB):c.*316C>T	rs2049611427
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)	rs2090436424
NM_001164508.2(NEB):c.21973G>A (p.Glu7325Lys)	rs747662624
NM_001164508.2(NEB):c.22273-5T>C	rs886054929
NM_001164508.2(NEB):c.22591-3C>T	rs778824203
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)	rs778662915
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)	rs140967744
NM_001164508.2(NEB):c.24919C>A (p.Pro8307Thr)	rs886054927
NM_001164508.2(NEB):c.25258T>C (p.Ser8420Pro)	rs886054925
NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val)	rs2049766133

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