ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as pathogenic

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Total variants: 51
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HGVS dbSNP
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter)
NM_001271208.2(NEB):c.23456dup (p.Tyr7820fs) rs1559360386
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.23601_23604del (p.Val7868fs)
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter)
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24156del (p.Ile8053fs) rs758105619
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter)
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24311C>A (p.Ser8104Ter) rs1037388276
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24318_24319insAA (p.Tyr8107fs) rs1064795894
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.24394_24397dup (p.Ile8133fs) rs1553551595
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs)
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24626dup (p.Thr8210fs) rs1330332139
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs)
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25101del (p.Gln8368fs) rs1553526884
NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter) rs760200697
NM_001271208.2(NEB):c.25246_25247del (p.Met8416fs) rs1472403020
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870

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