ClinVar Miner

List of variants in gene LRPPRC reported as likely pathogenic for not provided

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412 0.00001
NM_133259.4(LRPPRC):c.3986-1G>C rs751068848 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) rs765911841 0.00001
NM_133259.4(LRPPRC):c.864+2T>C rs863224053 0.00001
NC_000002.11:g.(?_44116924)_(44119873_?)del
NC_000002.11:g.(?_44143180)_(44145434_?)del
NC_000002.11:g.(?_44173242)_(44204425_?)dup
NC_000002.11:g.(?_44184514)_(44207097_?)dup
NM_133259.4(LRPPRC):c.1010-1G>A
NM_133259.4(LRPPRC):c.1155+2T>G rs2103712799
NM_133259.4(LRPPRC):c.1262-1G>C rs2103710907
NM_133259.4(LRPPRC):c.1369+1G>C
NM_133259.4(LRPPRC):c.150-1G>T
NM_133259.4(LRPPRC):c.1582+1G>A rs2103661277
NM_133259.4(LRPPRC):c.1650-1G>T
NM_133259.4(LRPPRC):c.1677+1G>A
NM_133259.4(LRPPRC):c.1677+1G>T rs2103624540
NM_133259.4(LRPPRC):c.1678-1G>A rs1351402169
NM_133259.4(LRPPRC):c.1730_1735+1del
NM_133259.4(LRPPRC):c.1735+2T>C
NM_133259.4(LRPPRC):c.1736-2A>G
NM_133259.4(LRPPRC):c.1736-2A>T
NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter) rs786205523
NM_133259.4(LRPPRC):c.1842+1G>T
NM_133259.4(LRPPRC):c.1843-2A>G rs2103617318
NM_133259.4(LRPPRC):c.1920+1G>T rs863224055
NM_133259.4(LRPPRC):c.1965+2T>C
NM_133259.4(LRPPRC):c.2210+1G>A
NM_133259.4(LRPPRC):c.2423T>G (p.Leu808Trp) rs863224057
NM_133259.4(LRPPRC):c.2504+2T>A rs2105077267
NM_133259.4(LRPPRC):c.2505-2A>T
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.299_346+35delinsCTG
NM_133259.4(LRPPRC):c.3040-1G>T
NM_133259.4(LRPPRC):c.3149-2A>G
NM_133259.4(LRPPRC):c.3276-2A>G
NM_133259.4(LRPPRC):c.3364+1G>A rs1671044312
NM_133259.4(LRPPRC):c.3364+1G>C rs1671044312
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3709+1G>A rs1572894465
NM_133259.4(LRPPRC):c.3709+1G>T rs1572894465
NM_133259.4(LRPPRC):c.3710-1G>A
NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val) rs863224058
NM_133259.4(LRPPRC):c.3826-2A>G
NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter) rs1266345519
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_133259.4(LRPPRC):c.469+1G>C rs1060499785
NM_133259.4(LRPPRC):c.591+1G>T rs2103725722
NM_133259.4(LRPPRC):c.592-2A>T
NM_133259.4(LRPPRC):c.650+1G>A
NM_133259.4(LRPPRC):c.738-3_739del
NM_133259.4(LRPPRC):c.865-2A>G

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