ClinVar Miner

List of variants in gene RPGRIP1 reported as likely benign for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NC_000014.9:g.21351305G>C rs45540636 0.02592
NM_020366.4(RPGRIP1):c.1151+50T>G rs8022247 0.01217
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=) rs375546482 0.00006
NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=) rs201639860 0.00004
NM_020366.4(RPGRIP1):c.270C>T (p.Val90=) rs201269438 0.00004
NM_020366.4(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092 0.00003
NM_020366.4(RPGRIP1):c.1692A>G (p.Leu564=)
NM_020366.4(RPGRIP1):c.2040C>T (p.Ser680=)
NM_020366.4(RPGRIP1):c.218+43_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+51_218+53dup rs746359185

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