ClinVar Miner

List of variants in gene RP1L1 reported as likely benign

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Gene type:
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Total variants: 132
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HGVS dbSNP
GRCh37/hg19 8p23.1(chr8:10447116-10504819)
NM_178857.6(RP1L1):c.*200G>A rs544642796
NM_178857.6(RP1L1):c.*266C>T rs557198895
NM_178857.6(RP1L1):c.*307T>C rs146542491
NM_178857.6(RP1L1):c.*356C>G rs79353166
NM_178857.6(RP1L1):c.*38C>G rs374533327
NM_178857.6(RP1L1):c.*444T>A rs530449457
NM_178857.6(RP1L1):c.*513G>C rs181865746
NM_178857.6(RP1L1):c.-153C>A rs570111920
NM_178857.6(RP1L1):c.-165G>A rs550213627
NM_178857.6(RP1L1):c.-49G>A rs189109596
NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met) rs201195142
NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu) rs369268494
NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu) rs372681428
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln) rs536131729
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys) rs199589914
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1779G>A (p.Thr593=) rs78127667
NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr) rs141846905
NM_178857.6(RP1L1):c.2028C>G (p.Ser676Arg) rs200474804
NM_178857.6(RP1L1):c.2049C>T (p.Thr683=) rs146670053
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys) rs181556707
NM_178857.6(RP1L1):c.2157G>C (p.Leu719=) rs547631676
NM_178857.6(RP1L1):c.2174G>T (p.Gly725Val) rs529460241
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567
NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr) rs535712025
NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys) rs199746022
NM_178857.6(RP1L1):c.2396C>T (p.Thr799Met) rs371519198
NM_178857.6(RP1L1):c.2398C>A (p.Pro800Thr) rs142820770
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684
NM_178857.6(RP1L1):c.2469C>T (p.Ser823=) rs368842714
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821
NM_178857.6(RP1L1):c.24C>G (p.Ala8=) rs374965485
NM_178857.6(RP1L1):c.2568G>A (p.Pro856=) rs367933781
NM_178857.6(RP1L1):c.2620G>A (p.Gly874Ser) rs12114682
NM_178857.6(RP1L1):c.2643C>T (p.Ala881=) rs374382227
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320
NM_178857.6(RP1L1):c.2977G>A (p.Asp993Asn) rs144078596
NM_178857.6(RP1L1):c.2991C>G (p.Asp997Glu) rs188482891
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593
NM_178857.6(RP1L1):c.3263C>T (p.Ala1088Val) rs200477735
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729
NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser) rs201245739
NM_178857.6(RP1L1):c.33G>A (p.Pro11=) rs80059299
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426
NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp) rs200121539
NM_178857.6(RP1L1):c.3582G>T (p.Thr1194=) rs200519322
NM_178857.6(RP1L1):c.3691C>T (p.Pro1231Ser) rs201440296
NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser) rs186517479
NM_178857.6(RP1L1):c.3961C>G (p.Gln1321Glu) rs200373757
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401
NM_178857.6(RP1L1):c.4091G>C (p.Gly1364Ala) rs116752225
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913
NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu) rs182279724
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369
NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg) rs190000469
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335
NM_178857.6(RP1L1):c.4478C>T (p.Ala1493Val) rs138261433
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374
NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu) rs202068070
NM_178857.6(RP1L1):c.4620G>C (p.Glu1540Asp) rs115884793
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818
NM_178857.6(RP1L1):c.4662C>G (p.Asp1554Glu) rs374521681
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4732_4734dup (p.Lys1578dup) rs142134028
NM_178857.6(RP1L1):c.4797G>T (p.Leu1599=) rs368140961
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376
NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=) rs79563676
NM_178857.6(RP1L1):c.5138C>A (p.Thr1713Asn) rs200130856
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396
NM_178857.6(RP1L1):c.5284G>A (p.Glu1762Lys) rs141128719
NM_178857.6(RP1L1):c.5348C>T (p.Ala1783Val) rs374403002
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247
NM_178857.6(RP1L1):c.5447G>A (p.Gly1816Asp) rs79019225
NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser) rs115126172
NM_178857.6(RP1L1):c.5519C>G (p.Ala1840Gly) rs77968698
NM_178857.6(RP1L1):c.5618A>T (p.Asp1873Val) rs200622636
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.6(RP1L1):c.5761A>C (p.Ser1921Arg) rs149704659
NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=) rs747180512
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.6043G>T (p.Glu2015Ter) rs184873506
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469
NM_178857.6(RP1L1):c.6344G>A (p.Gly2115Asp) rs139374902
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870
NM_178857.6(RP1L1):c.6545C>A (p.Ala2182Asp) rs183570817
NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=) rs192990137
NM_178857.6(RP1L1):c.6644C>T (p.Pro2215Leu) rs187850525
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880
NM_178857.6(RP1L1):c.6816C>T (p.Val2272=) rs74638396
NM_178857.6(RP1L1):c.6916T>A (p.Trp2306Arg) rs200403049
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971
NM_178857.6(RP1L1):c.7004A>G (p.His2335Arg) rs117007660
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.6(RP1L1):c.776C>A (p.Pro259Gln) rs374097176
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010
NM_178857.6(RP1L1):c.792G>A (p.Ser264=) rs567914782
NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly) rs367838293
NM_178857.6(RP1L1):c.814C>G (p.Pro272Ala) rs77833234
NM_178857.6(RP1L1):c.850C>G (p.Pro284Ala) rs76756822
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816

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