ClinVar Miner

List of variants reported as benign for Familial dysautonomia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.959-15C>T rs112114410

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