ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP
NM_001271208.1(NEB):c.21651_21653delCAA (p.Asn7217del) rs758160111
NM_001271208.1(NEB):c.22051-2delA rs1553647715
NM_001271208.1(NEB):c.22207_22209delACA (p.Thr7403del) rs1553646403
NM_001271208.1(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.1(NEB):c.22447_22449delAAG (p.Lys7483del) rs1553641943
NM_001271208.1(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.1(NEB):c.22747_22749delAAG (p.Lys7583del) rs1553629857
NM_001271208.1(NEB):c.22816_22818delAAG (p.Lys7606del) rs760161843
NM_001271208.1(NEB):c.23010+2dup rs1553623381
NM_001271208.1(NEB):c.23011-6_23011-2del5 rs1014710501
NM_001271208.1(NEB):c.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.1(NEB):c.23428_23430delCAA (p.Gln7810del) rs1553614214
NM_001271208.1(NEB):c.23483_23485delTGT (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.1(NEB):c.23605_23607delGTT (p.Val7869del) rs1553601408
NM_001271208.1(NEB):c.23743_23745delCAC (p.His7915del) rs1553598770
NM_001271208.1(NEB):c.23953_23955delGAA (p.Glu7985del) rs1553576655
NM_001271208.1(NEB):c.23977_23979dup (p.Thr7993_Pro7994insThr) rs764993333
NM_001271208.1(NEB):c.24015_24018dup (p.Glu8007Serfs) rs761694639
NM_001271208.1(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.1(NEB):c.24034-2A>C rs1553569122
NM_001271208.1(NEB):c.24034-3_24034-2delCA rs1217738625
NM_001271208.1(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.1(NEB):c.24072_24075delACCT (p.Pro8025Serfs) rs756384471
NM_001271208.1(NEB):c.24108_24111delTCAA (p.Asn8036Lysfs) rs1553568447
NM_001271208.1(NEB):c.24117_24119dup (p.Phe8040_Ser8041insPhe) rs1553568381
NM_001271208.1(NEB):c.24119_24120dup (p.Ser8041Leufs) rs1553568357
NM_001271208.1(NEB):c.24313_24315dup (p.Val8105_Leu8106insVal) rs1553552449
NM_001271208.1(NEB):c.24315_24317dup (p.Leu8106_Tyr8107insLeu) rs781667543
NM_001271208.1(NEB):c.24367_24369dup (p.Met8123_Glu8124insMet) rs769252768
NM_001271208.1(NEB):c.24398_24400dup (p.Ile8133_Ser8134insIle) rs780724946
NM_001271208.1(NEB):c.24408_24410dup (p.Leu8137_Tyr8138insLeu) rs1344099907
NM_001271208.1(NEB):c.24460_24462dup (p.Met8154_Glu8155insMet) rs942843328
NM_001271208.1(NEB):c.24480_24482dup (p.Asn8160_Gln8161insHis) rs1372551649
NM_001271208.1(NEB):c.24491_24493dup (p.Ile8164_Ser8165insIle) rs767474018
NM_001271208.1(NEB):c.24577_24579delGAA (p.Glu8193del) rs1553544463
NM_001271208.1(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.1(NEB):c.24988_24990delCAT (p.His8330del) rs1553527955
NM_001271208.1(NEB):c.25062_25064delGAA (p.Lys8354del) rs755822172
NM_001271208.1(NEB):c.25287_25292del6 (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.1(NEB):c.25319delG (p.Gly8440Valfs) rs1553520266
NM_001271208.1(NEB):c.25450_25452delTCA (p.Ser8484del) rs1553519071
NM_001271208.1(NEB):c.25510-1G>C rs1553508368
NM_001271208.1(NEB):c.25534_25535insG (p.Tyr8512Terfs) rs1242654062
NM_001271208.1(NEB):c.25606G>T (p.Glu8536Ter) rs1304300842
NM_001271208.1(NEB):c.25613G>A (p.Trp8538Ter) rs1206080778
NM_001271208.1(NEB):c.25639_25640ins21 (p.?) rs1211056097
NM_001271208.1(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.1(NEB):c.25649delG (p.Gly8550Glufs) rs1205824305
NM_004543.4(NEB):c.17329C>T (p.Arg5777Cys) rs202050860

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