ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.*44T>C rs370767680
NM_020366.3(RPGRIP1):c.*81A>G rs182458550
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397
NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466
NM_020366.3(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598
NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743
NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252
NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399
NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074
NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856
NM_020366.3(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3748+17dup rs578107768
NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341

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