ClinVar Miner

List of variants in gene RP1L1 reported as benign for not specified

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498 0.94637
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822 0.92448
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950 0.83140
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502 0.70110
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478 0.55174
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513 0.55050
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868 0.45034
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501 0.44121
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180 0.42095
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397 0.41802
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448 0.41338
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268 0.40064
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499 0.35232
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399 0.28031
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08193
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08031
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880 0.00297
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402 0.00253
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401 0.00242
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014 0.00218
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335 0.00208
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256 0.00192
NM_178857.6(RP1L1):c.3125T>A (p.Val1042Asp) rs201692326 0.00167
NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys) rs150491290 0.00160
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567 0.00150
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817 0.00141
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369 0.00103
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426 0.00076
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593 0.00069
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.2583C>T (p.Pro861=) rs191393277 0.00040
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_178857.6(RP1L1):c.213C>T (p.Arg71=) rs182267291 0.00019
NM_178857.6(RP1L1):c.1509C>T (p.Pro503=) rs371771522 0.00009
NM_178857.6(RP1L1):c.1317C>A (p.Gly439=) rs567145237 0.00005
NM_178857.6(RP1L1):c.3591C>T (p.Ser1197=) rs781007999 0.00003
NM_178857.6(RP1L1):c.1702G>C (p.Ala568Pro) rs868806061 0.00001
NM_178857.6(RP1L1):c.1386C>T (p.Pro462=) rs75355484
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) rs146656804
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262
NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val) rs141205444
NM_178857.6(RP1L1):c.3983_3984insGGGGACTAAAGTAAT (p.Glu1328_Glu1329insGlyThrLysValIle) rs760634189
NM_178857.6(RP1L1):c.4002G>A (p.Glu1334=) rs749598085
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.4662C>G (p.Asp1554Glu) rs374521681
NM_178857.6(RP1L1):c.4851G>C (p.Ser1617=) rs527539772
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.851C>T (p.Pro284Leu) rs74594406

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