ClinVar Miner

List of variants reported as likely benign for Familial dysautonomia by Counsyl

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Total variants: 6
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NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.3223-16C>G rs372907186
NM_003640.5(ELP1):c.3931+14C>G rs555520875

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