ClinVar Miner

List of variants reported as pathogenic for Familial dysautonomia by Invitae

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Total variants: 4
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NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter) rs1587896788
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.349del (p.Trp117fs) rs1587924458

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