ClinVar Miner

Variants in gene combination NEB, RIF1 with conflicting interpretations reported as "uncertain significance and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 38
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
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.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.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.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716

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