ClinVar Miner

List of variants in gene RPGRIP1 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.930+3A>G rs150107283 0.00402
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00345
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.3239-14C>T rs542859849 0.00034

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