ClinVar Miner

List of variants in gene RPGRIP1L reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe) rs758370789 0.00002
NM_015272.5(RPGRIP1L):c.2483C>A (p.Ala828Asp) rs755123128
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr) rs866468122
NM_015272.5(RPGRIP1L):c.3445A>G (p.Ile1149Val) rs2150964841
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) rs1445612197

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