ClinVar Miner

List of variants studied for cranial nerve neuropathy by Engle Laboratory, Boston Children's Hospital

Included ClinVar conditions (194):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs) rs879255276
NM_005461.5(MAFB):c.644del (p.Gln215fs) rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) rs1942163977
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) rs1942174390

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