ClinVar Miner

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

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Total variants: 22
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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.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.525A>G (p.Pro175=) rs17792599 0.16008
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294 0.00001
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1525C>T (p.Gln509Ter) rs61751267
NM_020366.4(RPGRIP1):c.1707T>G (p.Asn569Lys) rs61751273
NM_020366.4(RPGRIP1):c.195G>A (p.Trp65Ter) rs62646878
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020366.4(RPGRIP1):c.2565_2566insTT (p.Leu856fs) rs61751269
NM_020366.4(RPGRIP1):c.2627A>G (p.Asp876Gly) rs61751274
NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs) rs1555302659
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.4(RPGRIP1):c.3628_3629insG (p.Thr1210fs) rs61751272
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) rs61751265

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