ClinVar Miner

List of variants in gene RP1L1 reported by GeneDx

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Total variants: 7
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HGVS dbSNP
NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys) rs369908377
NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter) rs767562322
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063
NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter) rs986853401
NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter) rs1045490638
NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) rs1064796755

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