ClinVar Miner

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

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ClinVar version:
Total variants: 31
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HGVS dbSNP
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.1075C>T (p.Leu359=) rs2230789
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) rs969266362
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.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.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.273C>T (p.Asp91=) rs772231917
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.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.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.909C>G (p.Val303=) rs142420285
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889
NM_003640.5(ELP1):c.959-8C>T rs766511916

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