ClinVar Miner

List of variants in gene RPGRIP1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.907-155G>A rs1957413 0.53826
NM_020366.4(RPGRIP1):c.1077+187T>C rs8021536 0.53798
NM_020366.4(RPGRIP1):c.1762+297T>A rs8008315 0.53140
NM_020366.4(RPGRIP1):c.1468-326A>T rs10131759 0.52450
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_020366.4(RPGRIP1):c.1152-65G>A rs3748357 0.34499
NM_020366.4(RPGRIP1):c.930+26T>C rs1957414 0.30643
NM_020366.4(RPGRIP1):c.1612-185C>T rs3748359 0.29638
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_020366.4(RPGRIP1):c.587+171G>A rs8021748 0.24734
NM_020366.4(RPGRIP1):c.800+220G>A rs7144592 0.24091
NM_020366.4(RPGRIP1):c.800+164G>T rs7140235 0.24040
NM_020366.4(RPGRIP1):c.588-155C>T rs7140589 0.24034
NM_020366.4(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965 0.22187
NM_020366.4(RPGRIP1):c.3099+243G>A rs7159529 0.21823
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
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.3618-279T>C rs55797824 0.13577
NM_020366.4(RPGRIP1):c.3617+154A>G rs61695584 0.12733
NM_020366.4(RPGRIP1):c.3533-199C>G rs72684734 0.10318
NM_020366.4(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904 0.05758
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.1763-66C>T rs8015319 0.02832
NM_020366.4(RPGRIP1):c.1612-90A>T rs77206434 0.02820
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_020366.4(RPGRIP1):c.3340-77A>G rs78217014 0.02645
NM_020366.4(RPGRIP1):c.1306+203T>C rs12323827 0.02490
NM_020366.4(RPGRIP1):c.3239-185A>T rs17103594 0.02477
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_020366.4(RPGRIP1):c.3099+31T>C rs114936974 0.02431
NM_020366.4(RPGRIP1):c.3618-118G>A rs79387178 0.02314
NM_020366.4(RPGRIP1):c.3749-218_3749-216del rs1232302776 0.02284
NM_020366.4(RPGRIP1):c.3749-221_3749-220insGAT rs1176689770 0.02284
NM_020366.4(RPGRIP1):c.86-265T>C rs145863059 0.02240
NM_020366.4(RPGRIP1):c.587+277T>C rs377115691 0.01881
NM_020366.4(RPGRIP1):c.800+251C>T rs34295767 0.01738
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_020366.4(RPGRIP1):c.1151+200del rs202128771
NM_020366.4(RPGRIP1):c.1612-219G>A rs3748358
NM_020366.4(RPGRIP1):c.218+44_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+45_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+46_218+53del rs746359185
NM_020366.4(RPGRIP1):c.218+47_218+53del rs746359185
NM_020366.4(RPGRIP1):c.3532+243G>C rs10438064
NM_020366.4(RPGRIP1):c.3617+191TTAT[8] rs139819474
NM_020366.4(RPGRIP1):c.3749-202G>T rs6571770
NM_020366.4(RPGRIP1):c.491-144del rs11311589
NM_020366.4(RPGRIP1):c.587+272del rs71419125
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_020366.4(RPGRIP1):c.931-278AATA[5] rs35635981

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