ClinVar Miner

List of variants in gene RBP3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_002900.3(RBP3):c.1490A>G (p.Gln497Arg) rs139222112 0.00105
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) rs139299230 0.00055
NM_002900.3(RBP3):c.1764C>A (p.Ser588Arg) rs142531022 0.00036
NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg) rs147772956 0.00023
NM_002900.3(RBP3):c.416C>T (p.Pro139Leu) rs147118201 0.00021
NM_002900.3(RBP3):c.2330C>T (p.Ala777Val) rs145437524 0.00019
NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser) rs138240045 0.00019
NM_002900.3(RBP3):c.727G>A (p.Ala243Thr) rs149256669 0.00018
NM_002900.3(RBP3):c.2991C>A (p.His997Gln) rs145728430 0.00016
NM_002900.3(RBP3):c.73C>A (p.Pro25Thr) rs142651412 0.00016
NM_002900.3(RBP3):c.1271C>T (p.Ala424Val) rs139515510 0.00013
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) rs146153708 0.00012
NM_002900.3(RBP3):c.625G>A (p.Glu209Lys) rs148673483 0.00012
NM_002900.3(RBP3):c.773G>A (p.Arg258Gln) rs782333697 0.00011
NM_002900.3(RBP3):c.2900G>T (p.Gly967Val) rs141409712 0.00010
NM_002900.3(RBP3):c.2909G>C (p.Ser970Thr) rs1209861528 0.00010
NM_002900.3(RBP3):c.622A>G (p.Thr208Ala) rs142859988 0.00009
NM_002900.3(RBP3):c.2690T>C (p.Met897Thr) rs782507964 0.00007
NM_002900.3(RBP3):c.865C>T (p.Leu289Phe) rs782029087 0.00007
NM_002900.3(RBP3):c.2498G>A (p.Arg833His) rs200783520 0.00006
NM_002900.3(RBP3):c.2125G>T (p.Val709Leu) rs782171257 0.00005
NM_002900.3(RBP3):c.2597C>T (p.Thr866Met) rs782152099 0.00005
NM_002900.3(RBP3):c.1255G>A (p.Glu419Lys) rs201678977 0.00004
NM_002900.3(RBP3):c.1618C>T (p.Leu540Phe) rs376714442 0.00004
NM_002900.3(RBP3):c.1958G>A (p.Arg653Gln) rs782681548 0.00004
NM_002900.3(RBP3):c.2552C>T (p.Ala851Val) rs782402786 0.00004
NM_002900.3(RBP3):c.472A>T (p.Asn158Tyr) rs199588885 0.00004
NM_002900.3(RBP3):c.967C>T (p.Arg323Cys) rs373982809 0.00004
NM_002900.3(RBP3):c.1400C>T (p.Pro467Leu) rs782566834 0.00003
NM_002900.3(RBP3):c.1754C>A (p.Pro585His) rs781830183 0.00003
NM_002900.3(RBP3):c.2107C>T (p.His703Tyr) rs909554547 0.00003
NM_002900.3(RBP3):c.229G>A (p.Gly77Arg) rs781916311 0.00003
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) rs782632795 0.00003
NM_002900.3(RBP3):c.1042C>T (p.Pro348Ser) rs199720350 0.00002
NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser) rs527458754 0.00002
NM_002900.3(RBP3):c.1630C>T (p.Arg544Cys) rs782114958 0.00002
NM_002900.3(RBP3):c.1709C>T (p.Ala570Val) rs782172169 0.00002
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys) rs782791110 0.00002
NM_002900.3(RBP3):c.2020C>T (p.Arg674Cys) rs782227889 0.00002
NM_002900.3(RBP3):c.2158G>T (p.Val720Phe) rs371012117 0.00002
NM_002900.3(RBP3):c.2532G>A (p.Met844Ile) rs1185069667 0.00002
NM_002900.3(RBP3):c.2590C>T (p.Arg864Trp) rs781806123 0.00002
NM_002900.3(RBP3):c.2800C>T (p.Arg934Cys) rs200537174 0.00002
NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys) rs782423972 0.00002
NM_002900.3(RBP3):c.3500T>C (p.Ile1167Thr) rs782037765 0.00002
NM_002900.3(RBP3):c.1076T>C (p.Phe359Ser) rs1380418518 0.00001
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) rs782662883 0.00001
NM_002900.3(RBP3):c.1163G>A (p.Arg388Gln) rs141006781 0.00001
NM_002900.3(RBP3):c.1442A>C (p.Asn481Thr) rs782142540 0.00001
NM_002900.3(RBP3):c.1519T>C (p.Phe507Leu) rs1342487279 0.00001
NM_002900.3(RBP3):c.1532A>T (p.Asp511Val) rs1555211247 0.00001
NM_002900.3(RBP3):c.1646C>T (p.Ala549Val) rs782601697 0.00001
NM_002900.3(RBP3):c.1829G>C (p.Gly610Ala) rs781924662 0.00001
NM_002900.3(RBP3):c.2023A>G (p.Thr675Ala) rs1192156226 0.00001
NM_002900.3(RBP3):c.2093G>A (p.Arg698His) rs1439875662 0.00001
NM_002900.3(RBP3):c.2117G>A (p.Gly706Asp) rs782380036 0.00001
NM_002900.3(RBP3):c.2240G>A (p.Arg747His) rs199953057 0.00001
NM_002900.3(RBP3):c.2320G>A (p.Asp774Asn) rs782484543 0.00001
NM_002900.3(RBP3):c.2362A>G (p.Ser788Gly) rs782234691 0.00001
NM_002900.3(RBP3):c.2428T>C (p.Tyr810His) rs782564424 0.00001
NM_002900.3(RBP3):c.2621G>A (p.Gly874Glu) rs1474298507 0.00001
NM_002900.3(RBP3):c.2687A>G (p.Gln896Arg) rs1836966804 0.00001
NM_002900.3(RBP3):c.2788A>G (p.Ile930Val) rs782772636 0.00001
NM_002900.3(RBP3):c.2828C>T (p.Thr943Met) rs782362888 0.00001
NM_002900.3(RBP3):c.3157G>A (p.Gly1053Ser) rs140160521 0.00001
NM_002900.3(RBP3):c.3221C>T (p.Thr1074Met) rs1245980865 0.00001
NM_002900.3(RBP3):c.3547G>A (p.Val1183Met) rs782447533 0.00001
NM_002900.3(RBP3):c.3587G>A (p.Arg1196His) rs558333123 0.00001
NM_002900.3(RBP3):c.3699C>G (p.Asn1233Lys) rs1440493185 0.00001
NM_002900.3(RBP3):c.41G>A (p.Cys14Tyr) rs1164675770 0.00001
NM_002900.3(RBP3):c.709G>T (p.Gly237Cys) rs139362090 0.00001
NM_002900.3(RBP3):c.722A>T (p.Asp241Val) rs782211857 0.00001
NM_002900.3(RBP3):c.754G>A (p.Ala252Thr) rs1315427948 0.00001
NM_002900.3(RBP3):c.810G>C (p.Arg270Ser) rs782280261 0.00001
NM_002900.3(RBP3):c.817G>A (p.Glu273Lys) rs782731903 0.00001
NM_002900.3(RBP3):c.859G>C (p.Gly287Arg) rs143324951 0.00001
NM_002900.3(RBP3):c.884C>T (p.Thr295Met) rs782631087 0.00001
NM_002900.3(RBP3):c.892G>C (p.Gly298Arg) rs1290433500 0.00001
NM_002900.3(RBP3):c.1258G>A (p.Ala420Thr) rs149484678
NM_002900.3(RBP3):c.1258G>T (p.Ala420Ser)
NM_002900.3(RBP3):c.1259C>A (p.Ala420Asp)
NM_002900.3(RBP3):c.1268A>C (p.Gln423Pro) rs2549028455
NM_002900.3(RBP3):c.1322A>C (p.Tyr441Ser) rs782422769
NM_002900.3(RBP3):c.1327C>T (p.Arg443Cys) rs864621999
NM_002900.3(RBP3):c.132C>A (p.Asn44Lys) rs2132252140
NM_002900.3(RBP3):c.1330T>G (p.Phe444Val) rs2549028499
NM_002900.3(RBP3):c.1333G>A (p.Asp445Asn) rs569378041
NM_002900.3(RBP3):c.1444C>G (p.Pro482Ala) rs1555211216
NM_002900.3(RBP3):c.1468C>A (p.Pro490Thr)
NM_002900.3(RBP3):c.1558C>A (p.His520Asn) rs2549028679
NM_002900.3(RBP3):c.1573G>C (p.Glu525Gln) rs2549028687
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) rs202162675
NM_002900.3(RBP3):c.1639A>G (p.Thr547Ala) rs1836938966
NM_002900.3(RBP3):c.1657G>A (p.Ala553Thr)
NM_002900.3(RBP3):c.1666A>G (p.Met556Val) rs1555211277
NM_002900.3(RBP3):c.1730G>A (p.Arg577His) rs782341147
NM_002900.3(RBP3):c.1733C>A (p.Thr578Lys) rs782234227
NM_002900.3(RBP3):c.1777G>C (p.Val593Leu)
NM_002900.3(RBP3):c.1781C>T (p.Pro594Leu) rs781947747
NM_002900.3(RBP3):c.1957C>T (p.Arg653Trp) rs782209617
NM_002900.3(RBP3):c.200C>T (p.Pro67Leu) rs201439265
NM_002900.3(RBP3):c.2048C>T (p.Ala683Val)
NM_002900.3(RBP3):c.2067C>A (p.Asp689Glu) rs1555211402
NM_002900.3(RBP3):c.2084G>A (p.Gly695Glu) rs782720269
NM_002900.3(RBP3):c.2137G>T (p.Ala713Ser) rs148332315
NM_002900.3(RBP3):c.2185C>A (p.Leu729Ile) rs1372129460
NM_002900.3(RBP3):c.2281G>C (p.Gly761Arg)
NM_002900.3(RBP3):c.2336T>A (p.Val779Glu) rs1588863329
NM_002900.3(RBP3):c.2353A>G (p.Asn785Asp) rs1054318097
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) rs142945423
NM_002900.3(RBP3):c.2554G>C (p.Ala852Pro)
NM_002900.3(RBP3):c.2666T>C (p.Leu889Ser) rs1836966480
NM_002900.3(RBP3):c.2732G>A (p.Gly911Asp) rs1467623422
NM_002900.3(RBP3):c.2749A>T (p.Thr917Ser) rs2549029505
NM_002900.3(RBP3):c.2752G>A (p.Val918Met) rs2549029508
NM_002900.3(RBP3):c.2846C>T (p.Ala949Val) rs2549029566
NM_002900.3(RBP3):c.2898C>A (p.Ser966Arg) rs41284960
NM_002900.3(RBP3):c.289G>C (p.Glu97Gln)
NM_002900.3(RBP3):c.2974C>T (p.Leu992Phe) rs782670311
NM_002900.3(RBP3):c.3166C>T (p.Leu1056Phe) rs1555211792
NM_002900.3(RBP3):c.3356T>C (p.Val1119Ala) rs782095292
NM_002900.3(RBP3):c.3440C>G (p.Thr1147Arg) rs781926837
NM_002900.3(RBP3):c.3520G>A (p.Gly1174Ser)
NM_002900.3(RBP3):c.3521G>A (p.Gly1174Asp) rs2549031507
NM_002900.3(RBP3):c.357G>T (p.Arg119Ser) rs138261581
NM_002900.3(RBP3):c.3583G>A (p.Ala1195Thr)
NM_002900.3(RBP3):c.3670G>T (p.Ala1224Ser) rs546489667
NM_002900.3(RBP3):c.3709G>A (p.Val1237Met) rs2132259366
NM_002900.3(RBP3):c.385A>T (p.Asn129Tyr) rs2549027651
NM_002900.3(RBP3):c.462C>A (p.His154Gln) rs1360716758
NM_002900.3(RBP3):c.467G>T (p.Trp156Leu) rs1555210929
NM_002900.3(RBP3):c.568G>C (p.Gly190Arg)
NM_002900.3(RBP3):c.605G>A (p.Arg202His)
NM_002900.3(RBP3):c.670G>A (p.Asp224Asn) rs1432897923
NM_002900.3(RBP3):c.778G>C (p.Gly260Arg) rs199687745
NM_002900.3(RBP3):c.782G>T (p.Gly261Val)
NM_002900.3(RBP3):c.928G>C (p.Glu310Gln)

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