ClinVar Miner

List of variants studied for Familial dysautonomia by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) rs201440191 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) rs757852635 0.00001

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