ClinVar Miner

List of variants in gene RPGRIP1 studied for not specified

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22045
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_020366.4(RPGRIP1):c.2215+7G>A rs7157052 0.19970
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05695
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02500
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02281
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01514
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00402
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00345
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.2376G>A (p.Ser792=) rs185667326 0.00183
NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989 0.00181
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00167
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.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00074
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00028
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020366.4(RPGRIP1):c.1991A>G (p.His664Arg) rs767180524 0.00017
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00007
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=) rs375546482 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020366.4(RPGRIP1):c.1965C>T (p.Thr655=) rs781676562 0.00004
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252 0.00004
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=) rs770273789 0.00001
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val) rs1325466987 0.00001
NC_000014.8:g.(21794333_21795781)_(21798547_21802763)del
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg) rs769167245
NM_020366.4(RPGRIP1):c.3308_3309delinsAAATA (p.Val1103delinsGluIle)
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_020366.4(RPGRIP1):c.3632T>A (p.Val1211Glu)
NM_020366.4(RPGRIP1):c.3748+1G>A
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213

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