ClinVar Miner

List of variants reported as uncertain significance for cranial nerve neuropathy by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (194):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) rs1356639316 0.00001
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716

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