ClinVar Miner

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

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Total variants: 4
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NC_000009.12:g.(?_108869105)_(108903679_?)del rs0
NC_000009.12:g.(?_108869115)_(108901681_?)del rs0
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
NM_003640.5(ELP1):c.3572+1G>A rs571348995

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