ClinVar Miner

List of variants studied for Familial dysautonomia by OMIM

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Total variants: 3
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HGVS dbSNP
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712

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