ClinVar Miner

List of variants reported as likely benign for Familial dysautonomia by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.*1247T>C rs76994656 0.00100
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.5(ELP1):c.-155A>G rs117100816

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