ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_001271208.2(NEB):c.24156del (p.Ile8053fs) rs758105619
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24318_24319insAA (p.Tyr8107fs) rs1064795894
NM_001271208.2(NEB):c.24394_24397dup (p.Ile8133fs) rs1553551595
NM_001271208.2(NEB):c.24626dup (p.Thr8210fs) rs1330332139
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870

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