ClinVar Miner

List of variants in gene RP1L1 reported as likely pathogenic for not provided

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Total variants: 5
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NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter) rs767562322
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter) rs986853401
NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter) rs1045490638

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