ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 66 by ClinVar Staff, National Center for Biotechnology Information (NCBI)

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.2077G>A (p.Val693Met) rs112888313 0.00857
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) rs35686775 0.00618
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
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.1569C>G (p.His523Gln) rs148093336 0.00030
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.1603C>T (p.Arg535Cys) rs143632019 0.00010
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) rs142945423 0.00010
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) rs200168559 0.00008
NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) rs782480179 0.00007
NM_002900.3(RBP3):c.844G>A (p.Val282Met) rs782095820 0.00006
NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) rs563600593 0.00004
NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) rs375761633 0.00003
NM_002900.3(RBP3):c.463G>A (p.Val155Met) rs782157576 0.00003
NM_002900.3(RBP3):c.53G>T (p.Gly18Val) rs864621997 0.00003
NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) rs376854254 0.00003
NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) rs781847641 0.00002
NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) rs781840247 0.00001
NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) rs782233167 0.00001
NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met) rs782099994 0.00001
NM_002900.3(RBP3):c.365G>A (p.Arg122His) rs41302693 0.00001
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) rs200239015 0.00001
NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) rs864621999
NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) rs368920246
NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) rs864622000
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) rs143110000
NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) rs782664364
NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) rs864622001
NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) rs373766942
NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) rs548622709
NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) rs200706310
NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile) rs864622002
NM_002900.3(RBP3):c.586G>A (p.Val196Met) rs782398712

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