List of variants in gene ELP1 reported as pathogenic for Familial dysautonomia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP
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.2204+6T>C	rs111033171
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter)	rs1564084140
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)	rs28939712
NM_003640.5(ELP1):c.349del (p.Trp117fs)	rs1587924458

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