ClinVar Miner

List of variants in gene RP1L1 reported as benign

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Gene type:
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Total variants: 59
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HGVS dbSNP
GRCh37/hg19 8p23.1(chr8:10448142-10503525)x1
GRCh37/hg19 8p23.1(chr8:10464206-10467207)x1
GRCh37/hg19 8p23.1(chr8:10466702-10467160)x1
NM_178857.6(RP1L1):c.*199C>T rs12542075
NM_178857.6(RP1L1):c.*226G>C rs12547192
NM_178857.6(RP1L1):c.*244C>T rs12542071
NM_178857.6(RP1L1):c.*27del rs143284016
NM_178857.6(RP1L1):c.*330T>G rs60196627
NM_178857.6(RP1L1):c.*335T>G rs58309857
NM_178857.6(RP1L1):c.*461T>G rs7816990
NM_178857.6(RP1L1):c.*98C>T rs12542104
NM_178857.6(RP1L1):c.-123C>G rs9969466
NM_178857.6(RP1L1):c.1460C>T (p.Ala487Val) rs74400517
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397
NM_178857.6(RP1L1):c.166C>T (p.Arg56Cys) rs150931842
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950
NM_178857.6(RP1L1):c.2172G>A (p.Ser724=) rs73662876
NM_178857.6(RP1L1):c.2268C>T (p.Asn756=) rs57819090
NM_178857.6(RP1L1):c.2316G>A (p.Ser772=) rs62490857
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868
NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) rs62490856
NM_178857.6(RP1L1):c.2780C>A (p.Thr927Asn) rs77230188
NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser) rs6601495
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Thr1327_Glu1328insGlu) rs146656804
NM_178857.6(RP1L1):c.4003G>A (p.Gly1335Arg) rs61503212
NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val) rs74366179
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518
NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=) rs78920388
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498
NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4448C>T (p.Ala1483Val) rs62490855
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399
NM_178857.6(RP1L1):c.501A>G (p.Thr167=) rs79329877
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.5643A>G (p.Gly1881=) rs112534810
NM_178857.6(RP1L1):c.5646G>T (p.Glu1882Asp) rs111646478
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val) rs28446662
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478
NM_178857.6(RP1L1):c.5997T>C (p.Asp1999=) rs78593181
NM_178857.6(RP1L1):c.610-13G>A rs62490859
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268
NM_178857.6(RP1L1):c.6596C>T (p.Pro2199Leu) rs75797924
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421
NM_178857.6(RP1L1):c.6674C>T (p.Pro2225Leu) rs74968439
NM_178857.6(RP1L1):c.6718G>C (p.Glu2240Gln) rs80000074
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156

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