ClinVar Miner

List of variants reported as likely pathogenic by Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
NM_001242376.1(GFAP):c.1125C>G (p.Asn375Lys)
NM_003907.3(EIF2B5):c.1010A>G (p.His337Arg)
NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter)
NM_005614.3(RHEB):c.119A>T (p.Glu40Val) rs1554438588
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)

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