ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24213_24214insAA (p.Tyr8072fs) rs1064795894
NM_001164508.2(NEB):c.24289_24292dup (p.Ile8098fs) rs1553551595
NM_001164508.2(NEB):c.24521dup (p.Thr8175fs) rs1330332139
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136

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