ClinVar Miner

List of variants reported as benign for retinitis pigmentosa 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_201253.3(CRB1):c.849-35T>C rs1337167 0.82735
NM_201253.3(CRB1):c.2677-493A>G rs7534863 0.41382
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_201253.3(CRB1):c.1410= (p.Leu470=) rs3902057 0.07472
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_201253.3(CRB1):c.2128+15A>C rs75691013 0.01643
NM_201253.3(CRB1):c.2677-8C>T rs73071678 0.00970
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_201253.3(CRB1):c.2843-13C>T rs199808176 0.00109
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) rs139040133 0.00015
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312 0.00001
NM_201253.3(CRB1):c.1172-13dup
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.653-6del
NM_201253.3(CRB1):c.71-13dup rs772914182
NM_201253.3(CRB1):c.848+9del rs1357084962
NM_201253.3(CRB1):c.848+9dup rs1357084962
NM_201253.3(CRB1):c.988+13dup
NM_201253.3(CRB1):c.989-53T>G rs2786098

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