ClinVar Miner

List of variants in gene RBP3 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
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.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) rs34932849 0.00163
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) rs148247227 0.00157
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_002900.3(RBP3):c.63C>T (p.His21=) rs146038948 0.00125
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) rs143076262 0.00121
NM_002900.3(RBP3):c.126G>A (p.Pro42=) rs146175391 0.00061
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00019
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) rs368898051 0.00012
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) rs782233629 0.00004
NM_002900.3(RBP3):c.2743G>A (p.Asp915Asn) rs727504123 0.00003
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) rs782662883 0.00001
NM_002900.3(RBP3):c.1534C>T (p.Arg512Cys) rs782041794 0.00001
NM_002900.3(RBP3):c.1928C>T (p.Thr643Ile) rs782797838 0.00001
NM_002900.3(RBP3):c.1200G>A (p.Ala400=) rs782798406
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_002900.3(RBP3):c.816C>A (p.Gly272=) rs148432607
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635

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