ClinVar Miner

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

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Total variants: 4
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NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.2818T>C (p.Leu940=) rs1587887904
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=) rs772800681

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