ClinVar Miner

List of variants reported as likely benign for Familial dysautonomia

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Total variants: 53
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HGVS dbSNP
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.5(ELP1):c.*1247T>C rs76994656
NM_003640.5(ELP1):c.-155A>G rs117100816
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.-22G>T rs0
NM_003640.5(ELP1):c.-64G>A rs575166769
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.1860T>C (p.Cys620=) rs769936175
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.5(ELP1):c.2204+18G>C rs115641835
NM_003640.5(ELP1):c.2205-7C>T rs148221146
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917
NM_003640.5(ELP1):c.2818T>C (p.Leu940=) rs1587887904
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
NM_003640.5(ELP1):c.304-7G>A rs374063549
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) rs1315617472
NM_003640.5(ELP1):c.3223-16C>G rs372907186
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=) rs372541751
NM_003640.5(ELP1):c.3347-15A>G rs200154542
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) rs766875245
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3714T>C (p.His1238=) rs749975442
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=) rs772800681
NM_003640.5(ELP1):c.3931+14C>G rs555520875
NM_003640.5(ELP1):c.423G>A (p.Glu141=) rs567960748
NM_003640.5(ELP1):c.579C>T (p.Asp193=) rs766231058
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) rs184739734
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.741-15dup rs398102543
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889
NM_003640.5(ELP1):c.959-15C>T rs112114410
NM_003640.5(ELP1):c.959-8C>T rs766511916

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