ClinVar Miner

List of variants in gene RBM20 reported as uncertain significance for not provided

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Gene type:
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Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506 0.00031
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg) rs558674954 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) rs562882648 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) rs371181124 0.00014
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser) rs923358109 0.00013
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) rs794729160 0.00010
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) rs1160693970 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) rs1029261119 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg) rs1439106449 0.00003
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu) rs1241224023 0.00003
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro) rs1064796938 0.00003
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val) rs947755400 0.00002
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) rs750988872 0.00002
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser) rs1361625543 0.00002
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met) rs947100716 0.00002
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly) rs1353948871 0.00002
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr) rs794729155 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met) rs1473408518 0.00002
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) rs794729158 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala) rs996172004 0.00002
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys) rs794729142 0.00001
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser) rs998547889 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg) rs775062085 0.00001
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) rs774916799 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn) rs1444950975 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu) rs899383029 0.00001
NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr) rs763208424 0.00001
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp) rs1204905333 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.2287G>A (p.Glu763Lys) rs794729152 0.00001
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) rs371116877 0.00001
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) rs794727966 0.00001
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) rs368291152 0.00001
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys) rs112880805 0.00001
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs) rs1844916553 0.00001
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) rs748335429 0.00001
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=) rs1395153921 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp) rs1159249168 0.00001
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618 0.00001
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His) rs1421547378 0.00001
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg) rs1057524087 0.00001
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr) rs1416612925 0.00001
NM_001134363.3(RBM20):c.50A>T (p.Glu17Val) rs1443727983 0.00001
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu) rs1321284191 0.00001
NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu) rs1185360800 0.00001
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val) rs1189201346 0.00001
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys) rs1339836806 0.00001
GRCh37/hg19 10q25.2(chr10:112448209-112601330)x3
NM_001134363.3(RBM20):c.109_112del (p.Gly37fs) rs2134792820
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) rs794729143
NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr)
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr) rs1060503412
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser) rs939425427
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del) rs1286990478
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup) rs1286990478
NM_001134363.3(RBM20):c.1432T>G (p.Tyr478Asp)
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
NM_001134363.3(RBM20):c.1527+2del rs1554899451
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.1528T>C (p.Phe510Leu)
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup) rs1554886580
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.1636A>G (p.Thr546Ala) rs2135073949
NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr)
NM_001134363.3(RBM20):c.1694A>G (p.Glu565Gly)
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) rs794729147
NM_001134363.3(RBM20):c.1804C>A (p.Pro602Thr) rs1057524451
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del) rs794729163
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) rs794729149
NM_001134363.3(RBM20):c.19A>G (p.Met7Val) rs1590590851
NM_001134363.3(RBM20):c.19A>T (p.Met7Leu) rs1590590851
NM_001134363.3(RBM20):c.2033dup (p.His678fs) rs2135104270
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter) rs376380567
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg) rs1554842725
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His) rs1448017649
NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu) rs794729151
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile) rs1372553161
NM_001134363.3(RBM20):c.2239C>G (p.His747Asp)
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His) rs1036485472
NM_001134363.3(RBM20):c.2299A>C (p.Lys767Gln) rs775075323
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.2381G>C (p.Arg794Thr) rs893252924
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) rs794729153
NM_001134363.3(RBM20):c.2592_2595del (p.Ser865fs) rs2135118733
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter) rs1564663888
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) rs2135120754
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) rs397516606
NM_001134363.3(RBM20):c.2731G>A (p.Val911Met) rs1590701521
NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu) rs368136394
NM_001134363.3(RBM20):c.2740G>C (p.Val914Leu) rs2135120928
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys) rs1844907124
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.2806G>T (p.Asp936Tyr)
NM_001134363.3(RBM20):c.2944A>G (p.Arg982Gly)
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3076G>C (p.Glu1026Gln)
NM_001134363.3(RBM20):c.3198C>G (p.Cys1066Trp)
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134363.3(RBM20):c.3269T>C (p.Ile1090Thr) rs1316833587
NM_001134363.3(RBM20):c.32C>T (p.Ala11Val) rs794726895
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.336C>T (p.Asn112=)
NM_001134363.3(RBM20):c.3424G>A (p.Val1142Met) rs1057519239
NM_001134363.3(RBM20):c.3440G>A (p.Ser1147Asn)
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
NM_001134363.3(RBM20):c.3560A>G (p.Tyr1187Cys)
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) rs753102653
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu) rs727504583
NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser)
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter) rs794729161
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr) rs2135042080
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val) rs2135042487
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val) rs925693368
NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg)
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) rs1564844065
NM_001134363.3(RBM20):c.817G>C (p.Asp273His)
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg) rs2135043435
NM_001134363.3(RBM20):c.968A>G (p.His323Arg) rs568559249
NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu)
NM_001134363.3(RBM20):c.98del (p.Pro33fs) rs1413443268

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