ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance by Invitae

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Total variants: 67
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HGVS dbSNP
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NM_001271208.1(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.1(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.1(NEB):c.21689_21690invCA (p.Thr7230Met)
NM_001271208.1(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.1(NEB):c.21794C>T (p.Ala7265Val)
NM_001271208.1(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.1(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.1(NEB):c.21946-6T>A rs767466501
NM_001271208.1(NEB):c.21964C>G (p.Arg7322Gly)
NM_001271208.1(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.1(NEB):c.22075A>C (p.Lys7359Gln)
NM_001271208.1(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.1(NEB):c.22109C>T (p.Thr7370Met) rs767584361
NM_001271208.1(NEB):c.22112C>T (p.Pro7371Leu)
NM_001271208.1(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.1(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.1(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.1(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.1(NEB):c.22479+6G>A rs749050869
NM_001271208.1(NEB):c.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.1(NEB):c.22546A>G (p.Ile7516Val)
NM_001271208.1(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.1(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.1(NEB):c.23122-3T>C rs111314898
NM_001271208.1(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.1(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.1(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.1(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.1(NEB):c.23482A>C (p.Met7828Leu) rs199957886
NM_001271208.1(NEB):c.23483T>C (p.Met7828Thr) rs536677256
NM_001271208.1(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.1(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.1(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.1(NEB):c.23662-3C>G
NM_001271208.1(NEB):c.23701G>A (p.Gly7901Arg)
NM_001271208.1(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.1(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.1(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.1(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.1(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.1(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.1(NEB):c.24091G>A (p.Glu8031Lys)
NM_001271208.1(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.1(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.1(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.1(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.1(NEB):c.24411A>C (p.Leu8137Phe)
NM_001271208.1(NEB):c.24455C>T (p.Pro8152Leu)
NM_001271208.1(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.1(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.1(NEB):c.24847C>T (p.Arg8283Cys)
NM_001271208.1(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.1(NEB):c.25169G>A (p.Arg8390His)
NM_001271208.1(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.1(NEB):c.25235G>A (p.Arg8412Gln)
NM_001271208.1(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.1(NEB):c.25277G>A (p.Arg8426Gln)
NM_001271208.1(NEB):c.25308_25309invCA (p.Ile8437Val)
NM_001271208.1(NEB):c.25361T>C (p.Leu8454Pro)
NM_001271208.1(NEB):c.25464A>C (p.Gln8488His)
NM_004543.4(NEB):c.17747A>G (p.Asp5916Gly) rs776739582
NM_004543.4(NEB):c.18802C>T (p.Arg6268Cys) rs201419564
NM_004543.4(NEB):c.18952G>A (p.Ala6318Thr) rs199937246
NM_004543.4(NEB):c.19597C>T (p.Arg6533Trp) rs373551215
NM_004543.4(NEB):c.19895A>G (p.Lys6632Arg) rs201714437

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