ClinVar Miner

List of variants in gene RBP3 studied for Retinal dystrophy

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.2898C>T (p.Ser966=) rs41284960 0.01476
NM_002900.3(RBP3):c.2650G>A (p.Val884Met) rs11204213 0.00269
NM_002900.3(RBP3):c.843C>T (p.Pro281=) rs35186791 0.00203
NM_002900.3(RBP3):c.927C>T (p.Ala309=) rs75452094 0.00071
NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg) rs147772956 0.00024
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) rs147796755 0.00015
NM_002900.3(RBP3):c.1333G>C (p.Asp445His) rs569378041 0.00010
NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) rs143632019 0.00010
NM_002900.3(RBP3):c.2156C>T (p.Ala719Val) rs375567540 0.00009
NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys) rs3740296 0.00009
NM_002900.3(RBP3):c.1216G>A (p.Glu406Lys) rs576373730 0.00007
NM_002900.3(RBP3):c.2324C>T (p.Thr775Met) rs201724324 0.00005
NM_002900.3(RBP3):c.2446G>T (p.Ala816Ser) rs544729230 0.00005
NM_002900.3(RBP3):c.2597C>T (p.Thr866Met) rs782152099 0.00005
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) rs782632795 0.00003
NM_002900.3(RBP3):c.411C>T (p.Ser137=) rs184452710 0.00003
NM_002900.3(RBP3):c.2020C>T (p.Arg674Cys) rs782227889 0.00002
NM_002900.3(RBP3):c.2490C>T (p.Ala830=) rs201066117 0.00002
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) rs782662883 0.00001
NM_002900.3(RBP3):c.1138T>G (p.Ser380Ala) rs201355398 0.00001
NM_002900.3(RBP3):c.1163G>A (p.Arg388Gln) rs141006781 0.00001
NM_002900.3(RBP3):c.1170C>T (p.Ile390=) rs146764267 0.00001
NM_002900.3(RBP3):c.1265G>A (p.Arg422Gln) rs781823270 0.00001
NM_002900.3(RBP3):c.1770G>A (p.Ala590=) rs782309677 0.00001
NM_002900.3(RBP3):c.1807G>A (p.Gly603Ser) rs202017297 0.00001
NM_002900.3(RBP3):c.2488G>A (p.Ala830Thr) rs782226632 0.00001
NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter) rs781881541 0.00001
NM_002900.3(RBP3):c.2979C>T (p.Ser993=) rs375342580 0.00001
NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val) rs202047317 0.00001
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) rs782519239 0.00001
NM_002900.3(RBP3):c.508C>T (p.Arg170Trp) rs782449660 0.00001
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) rs77257977 0.00001
NM_002900.3(RBP3):c.1036C>T (p.Arg346Cys)
NM_002900.3(RBP3):c.1191T>C (p.Ser397=)
NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) rs782469310
NM_002900.3(RBP3):c.1245G>A (p.Leu415=)
NM_002900.3(RBP3):c.1354G>T (p.Val452Phe)
NM_002900.3(RBP3):c.1502C>A (p.Ala501Asp)
NM_002900.3(RBP3):c.1525A>G (p.Thr509Ala)
NM_002900.3(RBP3):c.1588C>A (p.Arg530Ser)
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) rs202162675
NM_002900.3(RBP3):c.1589G>A (p.Arg530His)
NM_002900.3(RBP3):c.1620C>T (p.Leu540=)
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_002900.3(RBP3):c.1709C>T (p.Ala570Val)
NM_002900.3(RBP3):c.1753C>T (p.Pro585Ser)
NM_002900.3(RBP3):c.1777G>A (p.Val593Met)
NM_002900.3(RBP3):c.1857C>T (p.Ala619=) rs782455598
NM_002900.3(RBP3):c.1902A>C (p.Gln634His)
NM_002900.3(RBP3):c.1969G>A (p.Val657Met) rs532389581
NM_002900.3(RBP3):c.2180C>T (p.Thr727Ile) rs1371511644
NM_002900.3(RBP3):c.2340C>T (p.Ile780=)
NM_002900.3(RBP3):c.2341G>A (p.Asp781Asn)
NM_002900.3(RBP3):c.2372C>T (p.Thr791Met)
NM_002900.3(RBP3):c.240C>A (p.Ser80Arg)
NM_002900.3(RBP3):c.240C>T (p.Ser80=)
NM_002900.3(RBP3):c.2417G>A (p.Arg806His)
NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) rs782215106
NM_002900.3(RBP3):c.2557G>A (p.Glu853Lys)
NM_002900.3(RBP3):c.2570A>C (p.His857Pro) rs1836963759
NM_002900.3(RBP3):c.2647C>G (p.Gln883Glu)
NM_002900.3(RBP3):c.2884G>A (p.Ala962Thr) rs1426209551
NM_002900.3(RBP3):c.2971_2973del (p.Met991del)
NM_002900.3(RBP3):c.307C>T (p.Pro103Ser)
NM_002900.3(RBP3):c.3085A>C (p.Ile1029Leu)
NM_002900.3(RBP3):c.3087C>T (p.Ile1029=)
NM_002900.3(RBP3):c.3307G>A (p.Gly1103Ser)
NM_002900.3(RBP3):c.3459G>C (p.Glu1153Asp)
NM_002900.3(RBP3):c.359G>T (p.Gly120Val)
NM_002900.3(RBP3):c.3675G>A (p.Arg1225=)
NM_002900.3(RBP3):c.3709G>A (p.Val1237Met)
NM_002900.3(RBP3):c.445G>T (p.Glu149Ter) rs782463303
NM_002900.3(RBP3):c.490G>A (p.Ala164Thr)
NM_002900.3(RBP3):c.586G>A (p.Val196Met) rs782398712
NM_002900.3(RBP3):c.596T>C (p.Ile199Thr)
NM_002900.3(RBP3):c.632G>A (p.Trp211Ter) rs1480910058
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635

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