ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance by GeneDx

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_178857.6(RP1L1):c.4675G>A (p.Glu1559Lys) rs199965589 0.00163
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_178857.6(RP1L1):c.4360C>T (p.Pro1454Ser) rs200392631 0.00123
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.526A>G (p.Arg176Gly) rs187343209 0.00039
NM_178857.6(RP1L1):c.976A>G (p.Lys326Glu) rs188580536 0.00032
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys) rs369908377 0.00014
NM_178857.6(RP1L1):c.1937G>C (p.Ser646Thr) rs755501463 0.00006
NM_178857.6(RP1L1):c.2146T>C (p.Ser716Pro) rs200833270 0.00006
NM_178857.6(RP1L1):c.6173C>T (p.Pro2058Leu) rs374789384 0.00006
NM_178857.6(RP1L1):c.4631G>A (p.Arg1544His) rs371249670 0.00004
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223 0.00003
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.5089A>G (p.Arg1697Gly) rs1229768696 0.00001
NM_178857.6(RP1L1):c.989A>T (p.His330Leu) rs772188613 0.00001
NM_178857.6(RP1L1):c.1022G>A (p.Arg341Gln)
NM_178857.6(RP1L1):c.1043C>T (p.Ala348Val) rs374888951
NM_178857.6(RP1L1):c.1072G>T (p.Val358Phe)
NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser) rs150931842
NM_178857.6(RP1L1):c.2042C>T (p.Ser681Phe) rs2117204011
NM_178857.6(RP1L1):c.2374C>G (p.Leu792Val)
NM_178857.6(RP1L1):c.2579G>T (p.Arg860Leu)
NM_178857.6(RP1L1):c.2645G>A (p.Arg882Gln)
NM_178857.6(RP1L1):c.278T>G (p.Leu93Arg)
NM_178857.6(RP1L1):c.3058C>A (p.Gln1020Lys)
NM_178857.6(RP1L1):c.3322G>A (p.Ala1108Thr) rs981198123
NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) rs766948560
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.4177G>A (p.Gly1393Ser) rs762439244
NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro) rs756335904
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.5294_5301delinsAAGATGAC (p.Gly1765_Ala1767delinsGluAspAsp)
NM_178857.6(RP1L1):c.5467G>A (p.Asp1823Asn)
NM_178857.6(RP1L1):c.5785G>T (p.Gly1929Trp) rs769602264
NM_178857.6(RP1L1):c.5879_6487del (p.Val1960_Glu2162del)
NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) rs1064796755
NM_178857.6(RP1L1):c.6442G>T (p.Val2148Leu) rs200283060
NM_178857.6(RP1L1):c.755G>C (p.Ser252Thr)
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_178857.6(RP1L1):c.94C>T (p.Pro32Ser)

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