ClinVar Miner

List of variants in gene RPGRIP1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
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.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252 0.00002
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.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293

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