ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001271208.2(NEB):c.23601_23604del (p.Val7868fs)
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.25246_25247del (p.Met8416fs) rs1472403020

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