ClinVar Miner

List of variants studied for Neurodevelopmental disorder with eye movement abnormalities and ataxia by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032892.5(FRMD5):c.1051A>G (p.Ser351Gly) rs2508377588
NM_032892.5(FRMD5):c.1053C>G (p.Ser351Arg) rs2140355031
NM_032892.5(FRMD5):c.1054T>C (p.Cys352Arg) rs2140355019
NM_032892.5(FRMD5):c.1060T>C (p.Ser354Pro) rs751184580
NM_032892.5(FRMD5):c.1637A>G (p.Tyr546Cys) rs1006096376

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