ClinVar Miner

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

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ClinVar version:
Total variants: 7
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NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) rs1567773470
NM_003907.3(EIF2B5):c.1010A>G (p.His337Arg) rs907041830
NM_003907.3(EIF2B5):c.1030C>T (p.Arg344Ter) rs1560108537
NM_005614.4(RHEB):c.119A>T (p.Glu40Val) rs1554438588
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) rs1564617866
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) rs1565339091

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