ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 508
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HGVS dbSNP gnomAD frequency
NM_001253697.2(ERBIN):c.1862T>C (p.Ile621Thr) rs146472115 0.00086
NM_001253697.2(ERBIN):c.590C>T (p.Thr197Met) rs146136641 0.00079
NM_001253697.2(ERBIN):c.122T>C (p.Ile41Thr) rs141058175 0.00047
NM_001253697.2(ERBIN):c.2072T>C (p.Ile691Thr) rs150412505 0.00041
NM_001253697.2(ERBIN):c.867G>A (p.Met289Ile) rs371881644 0.00039
NM_001253697.2(ERBIN):c.4142A>G (p.Tyr1381Cys) rs368319086 0.00037
NM_001253697.2(ERBIN):c.2669A>C (p.Asn890Thr) rs137884324 0.00036
NM_001253697.2(ERBIN):c.2152G>C (p.Glu718Gln) rs201552740 0.00026
NM_001253697.2(ERBIN):c.3104A>G (p.Asn1035Ser) rs137933401 0.00022
NM_001253697.2(ERBIN):c.1879G>A (p.Val627Ile) rs139924770 0.00020
NM_001253697.2(ERBIN):c.2525A>T (p.Asp842Val) rs148176113 0.00018
NM_001253697.2(ERBIN):c.2762A>T (p.Asp921Val) rs140225399 0.00016
NM_001253697.2(ERBIN):c.2915A>G (p.Tyr972Cys) rs200286319 0.00016
NM_001253697.2(ERBIN):c.2396A>G (p.Asn799Ser) rs376784735 0.00012
NM_001253697.2(ERBIN):c.3062A>C (p.Tyr1021Ser) rs755214630 0.00012
NM_001253697.2(ERBIN):c.1883C>T (p.Ala628Val) rs142201440 0.00009
NM_001253697.2(ERBIN):c.959A>T (p.Gln320Leu) rs201928607 0.00009
NM_001253697.2(ERBIN):c.3815A>T (p.Gln1272Leu) rs200490128 0.00008
NM_001253697.2(ERBIN):c.3821A>G (p.His1274Arg) rs765532548 0.00008
NM_001253697.2(ERBIN):c.4128T>G (p.Ile1376Met) rs541038973 0.00008
NM_001253697.2(ERBIN):c.673-3T>C rs375483380 0.00008
NM_001253697.2(ERBIN):c.2129A>G (p.Asp710Gly) rs748137652 0.00007
NM_001253697.2(ERBIN):c.2204T>G (p.Leu735Trp) rs763593331 0.00007
NM_001253697.2(ERBIN):c.3723T>A (p.Ser1241Arg) rs938047830 0.00007
NM_001253697.2(ERBIN):c.3731A>G (p.Asp1244Gly) rs749820932 0.00007
NM_001253697.2(ERBIN):c.1772A>G (p.His591Arg) rs558900906 0.00005
NM_001253697.2(ERBIN):c.2759A>G (p.Tyr920Cys) rs374278956 0.00005
NM_001253697.2(ERBIN):c.2878G>T (p.Gly960Cys) rs200672807 0.00005
NM_001253697.2(ERBIN):c.3169T>C (p.Trp1057Arg) rs775041506 0.00005
NM_001253697.2(ERBIN):c.1655A>G (p.Tyr552Cys) rs750344725 0.00004
NM_001253697.2(ERBIN):c.2776G>T (p.Val926Leu) rs747510014 0.00004
NM_001253697.2(ERBIN):c.292G>A (p.Asp98Asn) rs769758780 0.00004
NM_001253697.2(ERBIN):c.3074C>G (p.Ser1025Cys) rs142349499 0.00004
NM_001253697.2(ERBIN):c.3295A>G (p.Ile1099Val) rs201995478 0.00004
NM_001253697.2(ERBIN):c.3637C>T (p.His1213Tyr) rs1158846468 0.00004
NM_001253697.2(ERBIN):c.896T>C (p.Ile299Thr) rs773664747 0.00004
NM_001253697.2(ERBIN):c.1462C>T (p.Pro488Ser) rs762427667 0.00003
NM_001253697.2(ERBIN):c.1588G>T (p.Asp530Tyr) rs748519248 0.00003
NM_001253697.2(ERBIN):c.1779T>A (p.Asp593Glu) rs200985133 0.00003
NM_001253697.2(ERBIN):c.2033C>T (p.Thr678Ile) rs755606456 0.00003
NM_001253697.2(ERBIN):c.2231T>C (p.Ile744Thr) rs367591212 0.00003
NM_001253697.2(ERBIN):c.2695G>A (p.Val899Ile) rs142415371 0.00003
NM_001253697.2(ERBIN):c.2884A>G (p.Thr962Ala) rs751934052 0.00003
NM_001253697.2(ERBIN):c.2905C>T (p.Pro969Ser) rs746436552 0.00003
NM_001253697.2(ERBIN):c.3286C>T (p.Arg1096Trp) rs369672448 0.00003
NM_001253697.2(ERBIN):c.3287G>A (p.Arg1096Gln) rs149205613 0.00003
NM_001253697.2(ERBIN):c.3421A>G (p.Arg1141Gly) rs763437507 0.00003
NM_001253697.2(ERBIN):c.3674A>G (p.Asp1225Gly) rs1314492787 0.00003
NM_001253697.2(ERBIN):c.3905C>T (p.Pro1302Leu) rs770329711 0.00003
NM_001253697.2(ERBIN):c.4187A>C (p.Lys1396Thr) rs766226774 0.00003
NM_001253697.2(ERBIN):c.952A>G (p.Ile318Val) rs373419259 0.00003
NM_001253697.2(ERBIN):c.1897A>C (p.Lys633Gln) rs774739126 0.00002
NM_001253697.2(ERBIN):c.1973G>C (p.Cys658Ser) rs769731098 0.00002
NM_001253697.2(ERBIN):c.2008C>G (p.Leu670Val) rs1005923573 0.00002
NM_001253697.2(ERBIN):c.2516A>C (p.His839Pro) rs772584558 0.00002
NM_001253697.2(ERBIN):c.257C>T (p.Ala86Val) rs780177969 0.00002
NM_001253697.2(ERBIN):c.2633T>G (p.Ile878Ser) rs1214937996 0.00002
NM_001253697.2(ERBIN):c.2828T>C (p.Ile943Thr) rs201617773 0.00002
NM_001253697.2(ERBIN):c.2914T>C (p.Tyr972His) rs561804124 0.00002
NM_001253697.2(ERBIN):c.3118A>G (p.Thr1040Ala) rs768204257 0.00002
NM_001253697.2(ERBIN):c.3457C>T (p.Pro1153Ser) rs369314970 0.00002
NM_001253697.2(ERBIN):c.3605G>A (p.Arg1202Gln) rs138617538 0.00002
NM_001253697.2(ERBIN):c.1084G>C (p.Glu362Gln) rs1276627448 0.00001
NM_001253697.2(ERBIN):c.1334T>C (p.Phe445Ser) rs759281396 0.00001
NM_001253697.2(ERBIN):c.1691C>T (p.Pro564Leu) rs937952941 0.00001
NM_001253697.2(ERBIN):c.1817A>T (p.Glu606Val) rs1453759328 0.00001
NM_001253697.2(ERBIN):c.1835_1837dup (p.Met612_Arg613insLeu) rs780531962 0.00001
NM_001253697.2(ERBIN):c.1949A>G (p.Asn650Ser) rs201942788 0.00001
NM_001253697.2(ERBIN):c.200A>C (p.Asn67Thr) rs762632075 0.00001
NM_001253697.2(ERBIN):c.2097T>G (p.Asp699Glu) rs1246708373 0.00001
NM_001253697.2(ERBIN):c.2335G>C (p.Glu779Gln) rs774255173 0.00001
NM_001253697.2(ERBIN):c.2500A>C (p.Asn834His) rs1408750700 0.00001
NM_001253697.2(ERBIN):c.2528G>A (p.Cys843Tyr) rs538916835 0.00001
NM_001253697.2(ERBIN):c.2539T>G (p.Leu847Val) rs202085007 0.00001
NM_001253697.2(ERBIN):c.2920C>T (p.Pro974Ser) rs749511350 0.00001
NM_001253697.2(ERBIN):c.2951G>C (p.Ser984Thr) rs921539028 0.00001
NM_001253697.2(ERBIN):c.2980T>G (p.Ser994Ala) rs1404512954 0.00001
NM_001253697.2(ERBIN):c.29G>A (p.Arg10Gln) rs747569024 0.00001
NM_001253697.2(ERBIN):c.3025C>G (p.Leu1009Val) rs1269019355 0.00001
NM_001253697.2(ERBIN):c.3116A>C (p.Asn1039Thr) rs1248360323 0.00001
NM_001253697.2(ERBIN):c.3242C>T (p.Ser1081Phe) rs1206989401 0.00001
NM_001253697.2(ERBIN):c.3294G>C (p.Gln1098His) rs541984323 0.00001
NM_001253697.2(ERBIN):c.3307G>A (p.Asp1103Asn) rs775391012 0.00001
NM_001253697.2(ERBIN):c.3403G>A (p.Asp1135Asn) rs528303560 0.00001
NM_001253697.2(ERBIN):c.3488A>G (p.Asn1163Ser) rs373256281 0.00001
NM_001253697.2(ERBIN):c.3496C>T (p.Arg1166Trp) rs142376458 0.00001
NM_001253697.2(ERBIN):c.3526A>G (p.Arg1176Gly) rs745566264 0.00001
NM_001253697.2(ERBIN):c.3677G>A (p.Gly1226Asp) rs1761594999 0.00001
NM_001253697.2(ERBIN):c.3707C>G (p.Ser1236Ter) rs1471706849 0.00001
NM_001253697.2(ERBIN):c.3779T>C (p.Met1260Thr) rs1205373084 0.00001
NM_001253697.2(ERBIN):c.3869T>C (p.Leu1290Pro) rs912010395 0.00001
NM_001253697.2(ERBIN):c.3923A>G (p.His1308Arg) rs753013910 0.00001
NM_001253697.2(ERBIN):c.3952G>A (p.Ala1318Thr) rs757841017 0.00001
NM_001253697.2(ERBIN):c.4131+6T>C rs906325714 0.00001
NM_001253697.2(ERBIN):c.441T>A (p.Asp147Glu) rs757550675 0.00001
NM_001253697.2(ERBIN):c.501G>T (p.Glu167Asp) rs758457688 0.00001
NM_001253697.2(ERBIN):c.515A>G (p.Gln172Arg) rs1231546642 0.00001
NM_001253697.2(ERBIN):c.592G>A (p.Glu198Lys) rs1217388829 0.00001
NM_001253697.2(ERBIN):c.881C>G (p.Ser294Cys) rs769168464 0.00001
NM_001253697.2(ERBIN):c.885A>G (p.Ile295Met) rs774800199 0.00001
NM_001253697.2(ERBIN):c.953T>C (p.Ile318Thr) rs976920162 0.00001
NC_000005.9:g.(?_65367977)_(65368139_?)del
NC_000005.9:g.(?_65367977)_(65374358_?)del
NM_001253697.2(ERBIN):c.1002dup (p.Gln335fs)
NM_001253697.2(ERBIN):c.1008G>C (p.Gln336His)
NM_001253697.2(ERBIN):c.1015C>G (p.Pro339Ala)
NM_001253697.2(ERBIN):c.1021-3C>T
NM_001253697.2(ERBIN):c.1021-3del
NM_001253697.2(ERBIN):c.1039A>G (p.Ile347Val) rs1756248564
NM_001253697.2(ERBIN):c.1045G>A (p.Val349Met)
NM_001253697.2(ERBIN):c.1054C>T (p.Leu352Phe)
NM_001253697.2(ERBIN):c.1058A>G (p.His353Arg)
NM_001253697.2(ERBIN):c.1061C>T (p.Ser354Phe)
NM_001253697.2(ERBIN):c.1067A>G (p.Lys356Arg)
NM_001253697.2(ERBIN):c.1073A>T (p.Glu358Val)
NM_001253697.2(ERBIN):c.1076C>G (p.Thr359Arg)
NM_001253697.2(ERBIN):c.1086G>C (p.Glu362Asp)
NM_001253697.2(ERBIN):c.1096G>T (p.Asp366Tyr)
NM_001253697.2(ERBIN):c.1114G>A (p.Val372Ile) rs2151155292
NM_001253697.2(ERBIN):c.1136+4C>T
NM_001253697.2(ERBIN):c.1176A>T (p.Gln392His)
NM_001253697.2(ERBIN):c.1186A>G (p.Met396Val)
NM_001253697.2(ERBIN):c.1207-9C>T
NM_001253697.2(ERBIN):c.1223C>T (p.Pro408Leu)
NM_001253697.2(ERBIN):c.1242T>G (p.Asp414Glu)
NM_001253697.2(ERBIN):c.1246G>A (p.Glu416Lys)
NM_001253697.2(ERBIN):c.1253A>G (p.Gln418Arg)
NM_001253697.2(ERBIN):c.1261G>A (p.Val421Met)
NM_001253697.2(ERBIN):c.1305T>C (p.Asp435=)
NM_001253697.2(ERBIN):c.1307-7_1307-3del
NM_001253697.2(ERBIN):c.1309A>G (p.Met437Val) rs2151202349
NM_001253697.2(ERBIN):c.1315A>G (p.Ile439Val)
NM_001253697.2(ERBIN):c.1316T>C (p.Ile439Thr)
NM_001253697.2(ERBIN):c.131T>C (p.Phe44Ser)
NM_001253697.2(ERBIN):c.1347G>T (p.Leu449Phe) rs1758080542
NM_001253697.2(ERBIN):c.1351G>A (p.Glu451Lys)
NM_001253697.2(ERBIN):c.1370G>A (p.Arg457Gln)
NM_001253697.2(ERBIN):c.1373C>T (p.Ala458Val)
NM_001253697.2(ERBIN):c.1396G>A (p.Glu466Lys)
NM_001253697.2(ERBIN):c.1430A>T (p.Glu477Val)
NM_001253697.2(ERBIN):c.1432G>C (p.Gly478Arg)
NM_001253697.2(ERBIN):c.14dup (p.Ser6fs)
NM_001253697.2(ERBIN):c.1504G>T (p.Val502Leu)
NM_001253697.2(ERBIN):c.1535A>G (p.Glu512Gly)
NM_001253697.2(ERBIN):c.1544G>A (p.Gly515Glu)
NM_001253697.2(ERBIN):c.1546A>G (p.Arg516Gly)
NM_001253697.2(ERBIN):c.1550A>G (p.Asp517Gly)
NM_001253697.2(ERBIN):c.1552T>G (p.Leu518Val)
NM_001253697.2(ERBIN):c.155A>C (p.Tyr52Ser)
NM_001253697.2(ERBIN):c.155A>G (p.Tyr52Cys)
NM_001253697.2(ERBIN):c.1562A>G (p.His521Arg)
NM_001253697.2(ERBIN):c.1568A>G (p.Asp523Gly)
NM_001253697.2(ERBIN):c.1568A>T (p.Asp523Val) rs1369396014
NM_001253697.2(ERBIN):c.1591G>A (p.Val531Met) rs766536039
NM_001253697.2(ERBIN):c.1593G>A (p.Val531=)
NM_001253697.2(ERBIN):c.1606T>G (p.Ser536Ala) rs2151213022
NM_001253697.2(ERBIN):c.160G>A (p.Asp54Asn)
NM_001253697.2(ERBIN):c.160G>C (p.Asp54His)
NM_001253697.2(ERBIN):c.1612A>G (p.Ser538Gly)
NM_001253697.2(ERBIN):c.1616C>G (p.Thr539Ser)
NM_001253697.2(ERBIN):c.1618A>G (p.Thr540Ala)
NM_001253697.2(ERBIN):c.1624G>A (p.Val542Ile)
NM_001253697.2(ERBIN):c.1640A>T (p.Asp547Val)
NM_001253697.2(ERBIN):c.1644A>C (p.Glu548Asp)
NM_001253697.2(ERBIN):c.1654T>A (p.Tyr552Asn)
NM_001253697.2(ERBIN):c.1679A>G (p.Lys560Arg)
NM_001253697.2(ERBIN):c.1700A>C (p.Glu567Ala)
NM_001253697.2(ERBIN):c.1712G>A (p.Gly571Glu)
NM_001253697.2(ERBIN):c.1715G>A (p.Ser572Asn)
NM_001253697.2(ERBIN):c.1760A>G (p.His587Arg)
NM_001253697.2(ERBIN):c.1762A>G (p.Ile588Val)
NM_001253697.2(ERBIN):c.1763T>A (p.Ile588Asn)
NM_001253697.2(ERBIN):c.1763T>G (p.Ile588Ser)
NM_001253697.2(ERBIN):c.1769A>G (p.Asn590Ser)
NM_001253697.2(ERBIN):c.1774G>A (p.Asp592Asn)
NM_001253697.2(ERBIN):c.1789G>A (p.Glu597Lys)
NM_001253697.2(ERBIN):c.1796A>C (p.Glu599Ala)
NM_001253697.2(ERBIN):c.180G>T (p.Glu60Asp)
NM_001253697.2(ERBIN):c.1826T>G (p.Met609Arg)
NM_001253697.2(ERBIN):c.1845del (p.Pro615_Leu616insTer)
NM_001253697.2(ERBIN):c.1871C>G (p.Pro624Arg)
NM_001253697.2(ERBIN):c.1873A>G (p.Lys625Glu)
NM_001253697.2(ERBIN):c.1879G>T (p.Val627Leu)
NM_001253697.2(ERBIN):c.1892A>G (p.Asn631Ser)
NM_001253697.2(ERBIN):c.1896C>A (p.Asn632Lys)
NM_001253697.2(ERBIN):c.1896_1898del (p.Asn632del)
NM_001253697.2(ERBIN):c.1899A>T (p.Lys633Asn)
NM_001253697.2(ERBIN):c.190-3T>C
NM_001253697.2(ERBIN):c.1902dup (p.Asp635fs)
NM_001253697.2(ERBIN):c.1903+6A>C
NM_001253697.2(ERBIN):c.1921G>C (p.Asp641His)
NM_001253697.2(ERBIN):c.192A>G (p.Gln64=) rs764743869
NM_001253697.2(ERBIN):c.1937A>T (p.Glu646Val) rs2151227419
NM_001253697.2(ERBIN):c.1950T>G (p.Asn650Lys) rs1758944730
NM_001253697.2(ERBIN):c.1975TCT[1] (p.Ser660del) rs776881957
NM_001253697.2(ERBIN):c.1987C>T (p.Arg663Trp)
NM_001253697.2(ERBIN):c.1988G>A (p.Arg663Gln)
NM_001253697.2(ERBIN):c.1997A>T (p.Asp666Val)
NM_001253697.2(ERBIN):c.2002G>T (p.Val668Phe)
NM_001253697.2(ERBIN):c.2008C>T (p.Leu670Phe)
NM_001253697.2(ERBIN):c.2012A>G (p.Asn671Ser)
NM_001253697.2(ERBIN):c.2015C>A (p.Thr672Asn)
NM_001253697.2(ERBIN):c.2018A>G (p.Asp673Gly)
NM_001253697.2(ERBIN):c.2021G>T (p.Ser674Ile)
NM_001253697.2(ERBIN):c.2024G>A (p.Ser675Asn)
NM_001253697.2(ERBIN):c.2044T>C (p.Ser682Pro)
NM_001253697.2(ERBIN):c.2063A>G (p.His688Arg)
NM_001253697.2(ERBIN):c.206A>G (p.Gln69Arg)
NM_001253697.2(ERBIN):c.2088-1G>C
NM_001253697.2(ERBIN):c.2104T>G (p.Phe702Val)
NM_001253697.2(ERBIN):c.2110A>G (p.Ser704Gly)
NM_001253697.2(ERBIN):c.213A>T (p.Leu71Phe) rs2151054888
NM_001253697.2(ERBIN):c.2161A>G (p.Lys721Glu)
NM_001253697.2(ERBIN):c.216C>G (p.His72Gln)
NM_001253697.2(ERBIN):c.2170G>T (p.Asp724Tyr)
NM_001253697.2(ERBIN):c.2174A>G (p.Lys725Arg)
NM_001253697.2(ERBIN):c.2181T>G (p.Asp727Glu)
NM_001253697.2(ERBIN):c.2198A>G (p.Tyr733Cys)
NM_001253697.2(ERBIN):c.2205G>T (p.Leu735Phe)
NM_001253697.2(ERBIN):c.2219G>A (p.Arg740Gln) rs374901776
NM_001253697.2(ERBIN):c.2219G>T (p.Arg740Leu)
NM_001253697.2(ERBIN):c.2260dup (p.Ala754fs) rs2151237329
NM_001253697.2(ERBIN):c.2263del (p.Asp755fs)
NM_001253697.2(ERBIN):c.2276A>G (p.Lys759Arg)
NM_001253697.2(ERBIN):c.2289C>G (p.Ile763Met)
NM_001253697.2(ERBIN):c.2291A>G (p.Asn764Ser)
NM_001253697.2(ERBIN):c.2292T>G (p.Asn764Lys)
NM_001253697.2(ERBIN):c.2299C>T (p.Leu767Phe)
NM_001253697.2(ERBIN):c.2303A>G (p.Asn768Ser)
NM_001253697.2(ERBIN):c.2313A>G (p.Ile771Met)
NM_001253697.2(ERBIN):c.2344G>C (p.Glu782Gln)
NM_001253697.2(ERBIN):c.2366T>C (p.Ile789Thr)
NM_001253697.2(ERBIN):c.2375G>C (p.Gly792Ala)
NM_001253697.2(ERBIN):c.2377del (p.Thr793fs)
NM_001253697.2(ERBIN):c.2380A>G (p.Ser794Gly)
NM_001253697.2(ERBIN):c.2382C>G (p.Ser794Arg)
NM_001253697.2(ERBIN):c.2390G>A (p.Ser797Asn)
NM_001253697.2(ERBIN):c.2405A>T (p.Glu802Val)
NM_001253697.2(ERBIN):c.2417A>C (p.His806Pro) rs149409198
NM_001253697.2(ERBIN):c.2429G>T (p.Gly810Val)
NM_001253697.2(ERBIN):c.2434A>G (p.Lys812Glu)
NM_001253697.2(ERBIN):c.2473C>T (p.His825Tyr)
NM_001253697.2(ERBIN):c.2477C>T (p.Ser826Phe) rs2151238037
NM_001253697.2(ERBIN):c.2480A>C (p.Glu827Ala)
NM_001253697.2(ERBIN):c.2485A>C (p.Thr829Pro)
NM_001253697.2(ERBIN):c.2485A>G (p.Thr829Ala)
NM_001253697.2(ERBIN):c.248C>T (p.Thr83Met)
NM_001253697.2(ERBIN):c.2491C>T (p.Gln831Ter)
NM_001253697.2(ERBIN):c.2492A>C (p.Gln831Pro) rs143804809
NM_001253697.2(ERBIN):c.2492A>G (p.Gln831Arg)
NM_001253697.2(ERBIN):c.2493G>T (p.Gln831His)
NM_001253697.2(ERBIN):c.2515C>T (p.His839Tyr)
NM_001253697.2(ERBIN):c.2518G>C (p.Asp840His)
NM_001253697.2(ERBIN):c.2519A>G (p.Asp840Gly)
NM_001253697.2(ERBIN):c.2531C>T (p.Ser844Phe)
NM_001253697.2(ERBIN):c.2533G>A (p.Val845Ile)
NM_001253697.2(ERBIN):c.2533G>T (p.Val845Phe)
NM_001253697.2(ERBIN):c.253C>G (p.Pro85Ala)
NM_001253697.2(ERBIN):c.2546T>C (p.Ile849Thr)
NM_001253697.2(ERBIN):c.2564A>T (p.Asp855Val)
NM_001253697.2(ERBIN):c.257C>G (p.Ala86Gly)
NM_001253697.2(ERBIN):c.25G>T (p.Val9Leu)
NM_001253697.2(ERBIN):c.260C>T (p.Ser87Phe)
NM_001253697.2(ERBIN):c.2611C>G (p.His871Asp)
NM_001253697.2(ERBIN):c.2627T>C (p.Met876Thr)
NM_001253697.2(ERBIN):c.2638G>A (p.Gly880Arg)
NM_001253697.2(ERBIN):c.2639G>A (p.Gly880Glu)
NM_001253697.2(ERBIN):c.2642T>A (p.Leu881Gln)
NM_001253697.2(ERBIN):c.2642T>C (p.Leu881Pro)
NM_001253697.2(ERBIN):c.2657T>C (p.Ile886Thr)
NM_001253697.2(ERBIN):c.2660T>G (p.Leu887Arg)
NM_001253697.2(ERBIN):c.2662A>G (p.Ser888Gly)
NM_001253697.2(ERBIN):c.2675C>T (p.Pro892Leu)
NM_001253697.2(ERBIN):c.2689A>G (p.Thr897Ala) rs1759322688
NM_001253697.2(ERBIN):c.268A>G (p.Asn90Asp)
NM_001253697.2(ERBIN):c.2695G>T (p.Val899Phe)
NM_001253697.2(ERBIN):c.2704A>G (p.Thr902Ala) rs2151238911
NM_001253697.2(ERBIN):c.2732T>G (p.Val911Gly)
NM_001253697.2(ERBIN):c.2777T>C (p.Val926Ala)
NM_001253697.2(ERBIN):c.2808_2809insTAAA (p.Ile937Ter)
NM_001253697.2(ERBIN):c.2818A>G (p.Thr940Ala)
NM_001253697.2(ERBIN):c.2824G>C (p.Ala942Pro)
NM_001253697.2(ERBIN):c.2825C>T (p.Ala942Val) rs2151239445
NM_001253697.2(ERBIN):c.284G>T (p.Arg95Met)
NM_001253697.2(ERBIN):c.2857G>A (p.Glu953Lys)
NM_001253697.2(ERBIN):c.2858A>C (p.Glu953Ala)
NM_001253697.2(ERBIN):c.2867A>C (p.Asn956Thr)
NM_001253697.2(ERBIN):c.286G>A (p.Glu96Lys)
NM_001253697.2(ERBIN):c.2870T>C (p.Ile957Thr)
NM_001253697.2(ERBIN):c.2870TAA[1] (p.Ile958del)
NM_001253697.2(ERBIN):c.2881C>T (p.Pro961Ser)
NM_001253697.2(ERBIN):c.2897A>G (p.Gln966Arg)
NM_001253697.2(ERBIN):c.2898_2899delinsGC (p.Ser967Pro)
NM_001253697.2(ERBIN):c.2908C>G (p.Gln970Glu)
NM_001253697.2(ERBIN):c.2911A>G (p.Ile971Val)
NM_001253697.2(ERBIN):c.2912T>C (p.Ile971Thr)
NM_001253697.2(ERBIN):c.2918G>A (p.Gly973Asp) rs2151239882
NM_001253697.2(ERBIN):c.2924C>A (p.Pro975Gln)
NM_001253697.2(ERBIN):c.2927A>G (p.Gln976Arg) rs1363625092
NM_001253697.2(ERBIN):c.2936T>C (p.Ile979Thr)
NM_001253697.2(ERBIN):c.2939A>G (p.Gln980Arg)
NM_001253697.2(ERBIN):c.2945G>A (p.Ser982Asn)
NM_001253697.2(ERBIN):c.2962A>G (p.Lys988Glu)
NM_001253697.2(ERBIN):c.2968A>C (p.Thr990Pro)
NM_001253697.2(ERBIN):c.2972T>C (p.Leu991Ser)
NM_001253697.2(ERBIN):c.2998A>G (p.Ile1000Val)
NM_001253697.2(ERBIN):c.3003C>A (p.Asp1001Glu)
NM_001253697.2(ERBIN):c.3008C>G (p.Ala1003Gly)
NM_001253697.2(ERBIN):c.3015T>G (p.Phe1005Leu)
NM_001253697.2(ERBIN):c.3017C>G (p.Pro1006Arg)
NM_001253697.2(ERBIN):c.303G>C (p.Lys101Asn)
NM_001253697.2(ERBIN):c.3041A>G (p.Glu1014Gly)
NM_001253697.2(ERBIN):c.3043A>G (p.Ser1015Gly)
NM_001253697.2(ERBIN):c.3046A>G (p.Thr1016Ala)
NM_001253697.2(ERBIN):c.305A>C (p.Asn102Thr)
NM_001253697.2(ERBIN):c.3079A>C (p.Asn1027His) rs931899749
NM_001253697.2(ERBIN):c.3079A>G (p.Asn1027Asp)
NM_001253697.2(ERBIN):c.308-17C>A
NM_001253697.2(ERBIN):c.308-3T>C
NM_001253697.2(ERBIN):c.3082A>T (p.Met1028Leu)
NM_001253697.2(ERBIN):c.3083T>C (p.Met1028Thr) rs2151240614
NM_001253697.2(ERBIN):c.3085A>C (p.Asn1029His)
NM_001253697.2(ERBIN):c.3094A>C (p.Asn1032His)
NM_001253697.2(ERBIN):c.3094A>G (p.Asn1032Asp)
NM_001253697.2(ERBIN):c.3106G>A (p.Val1036Ile)
NM_001253697.2(ERBIN):c.3109C>G (p.Arg1037Gly)
NM_001253697.2(ERBIN):c.3122C>T (p.Ala1041Val)
NM_001253697.2(ERBIN):c.3152C>T (p.Ala1051Val)
NM_001253697.2(ERBIN):c.3167T>G (p.Met1056Arg) rs2151241012
NM_001253697.2(ERBIN):c.3169T>G (p.Trp1057Gly)
NM_001253697.2(ERBIN):c.3175A>G (p.Ile1059Val)
NM_001253697.2(ERBIN):c.3180_3193del (p.Pro1061fs)
NM_001253697.2(ERBIN):c.3187G>A (p.Asp1063Asn)
NM_001253697.2(ERBIN):c.3191G>A (p.Arg1064Gln)
NM_001253697.2(ERBIN):c.3203C>A (p.Ala1068Glu)
NM_001253697.2(ERBIN):c.3212G>A (p.Arg1071Gln)
NM_001253697.2(ERBIN):c.3215G>A (p.Ser1072Asn)
NM_001253697.2(ERBIN):c.3220A>G (p.Ile1074Val)
NM_001253697.2(ERBIN):c.3227G>A (p.Arg1076Gln)
NM_001253697.2(ERBIN):c.3227G>T (p.Arg1076Leu)
NM_001253697.2(ERBIN):c.3227_3228delinsAG (p.Arg1076Gln)
NM_001253697.2(ERBIN):c.3230A>G (p.Gln1077Arg)
NM_001253697.2(ERBIN):c.3241T>C (p.Ser1081Pro)
NM_001253697.2(ERBIN):c.3247A>C (p.Thr1083Pro)
NM_001253697.2(ERBIN):c.3256G>A (p.Val1086Ile)
NM_001253697.2(ERBIN):c.3280A>G (p.Thr1094Ala)
NM_001253697.2(ERBIN):c.3280A>T (p.Thr1094Ser)
NM_001253697.2(ERBIN):c.3284G>A (p.Arg1095Lys)
NM_001253697.2(ERBIN):c.3298C>G (p.Pro1100Ala)
NM_001253697.2(ERBIN):c.3304G>A (p.Gly1102Arg)
NM_001253697.2(ERBIN):c.3310T>C (p.Tyr1104His)
NM_001253697.2(ERBIN):c.3311A>G (p.Tyr1104Cys)
NM_001253697.2(ERBIN):c.3338C>T (p.Ala1113Val)
NM_001253697.2(ERBIN):c.3347C>G (p.Thr1116Ser)
NM_001253697.2(ERBIN):c.3348TCC[1] (p.Pro1118del) rs769167547
NM_001253697.2(ERBIN):c.3349C>T (p.Pro1117Ser)
NM_001253697.2(ERBIN):c.3355A>G (p.Met1119Val)
NM_001253697.2(ERBIN):c.3356T>C (p.Met1119Thr) rs1759415451
NM_001253697.2(ERBIN):c.3360G>T (p.Met1120Ile)
NM_001253697.2(ERBIN):c.3370C>A (p.Gln1124Lys)
NM_001253697.2(ERBIN):c.3376C>A (p.Pro1126Thr)
NM_001253697.2(ERBIN):c.3380T>C (p.Leu1127Pro)
NM_001253697.2(ERBIN):c.3388C>G (p.Arg1130Gly)
NM_001253697.2(ERBIN):c.3389G>A (p.Arg1130Gln) rs144581883
NM_001253697.2(ERBIN):c.3389G>T (p.Arg1130Leu)
NM_001253697.2(ERBIN):c.3400A>G (p.Ile1134Val) rs1759422081
NM_001253697.2(ERBIN):c.3431_3432delinsAA (p.Ser1144Lys)
NM_001253697.2(ERBIN):c.3434C>G (p.Ala1145Gly)
NM_001253697.2(ERBIN):c.3437G>A (p.Arg1146Gln)
NM_001253697.2(ERBIN):c.3439C>A (p.Pro1147Thr) rs376856725
NM_001253697.2(ERBIN):c.343A>G (p.Lys115Glu)
NM_001253697.2(ERBIN):c.3445A>G (p.Ile1149Val)
NM_001253697.2(ERBIN):c.3457C>A (p.Pro1153Thr)
NM_001253697.2(ERBIN):c.3469A>G (p.Met1157Val)
NM_001253697.2(ERBIN):c.3494C>T (p.Ser1165Leu)
NM_001253697.2(ERBIN):c.3497G>A (p.Arg1166Gln)
NM_001253697.2(ERBIN):c.3509C>T (p.Ser1170Leu)
NM_001253697.2(ERBIN):c.3511A>G (p.Lys1171Glu)
NM_001253697.2(ERBIN):c.3515G>T (p.Arg1172Ile)
NM_001253697.2(ERBIN):c.3517C>T (p.Pro1173Ser)
NM_001253697.2(ERBIN):c.3556C>T (p.Pro1186Ser)
NM_001253697.2(ERBIN):c.3563G>A (p.Gly1188Glu)
NM_001253697.2(ERBIN):c.3567A>C (p.Lys1189Asn)
NM_001253697.2(ERBIN):c.3568A>C (p.Ser1190Arg)
NM_001253697.2(ERBIN):c.3575T>C (p.Val1192Ala) rs2151242696
NM_001253697.2(ERBIN):c.3578C>T (p.Pro1193Leu) rs375152600
NM_001253697.2(ERBIN):c.3580C>T (p.Arg1194Cys)
NM_001253697.2(ERBIN):c.3585C>G (p.Asp1195Glu)
NM_001253697.2(ERBIN):c.35T>C (p.Val12Ala)
NM_001253697.2(ERBIN):c.3608A>G (p.His1203Arg)
NM_001253697.2(ERBIN):c.3611T>C (p.Ile1204Thr)
NM_001253697.2(ERBIN):c.3617C>T (p.Ala1206Val)
NM_001253697.2(ERBIN):c.3625T>G (p.Leu1209Val)
NM_001253697.2(ERBIN):c.3634-3T>C rs2151299355
NM_001253697.2(ERBIN):c.3640C>T (p.Pro1214Ser)
NM_001253697.2(ERBIN):c.3647C>T (p.Thr1216Ile)
NM_001253697.2(ERBIN):c.3656C>G (p.Ser1219Ter) rs2151299433
NM_001253697.2(ERBIN):c.3662A>C (p.Asp1221Ala)
NM_001253697.2(ERBIN):c.3665C>T (p.Pro1222Leu)
NM_001253697.2(ERBIN):c.3679A>G (p.Ile1227Val)
NM_001253697.2(ERBIN):c.3679A>T (p.Ile1227Leu)
NM_001253697.2(ERBIN):c.3695A>G (p.Gln1232Arg)
NM_001253697.2(ERBIN):c.3704A>C (p.Tyr1235Ser)
NM_001253697.2(ERBIN):c.3715A>C (p.Thr1239Pro)
NM_001253697.2(ERBIN):c.3722G>T (p.Ser1241Ile) rs2151299607
NM_001253697.2(ERBIN):c.3756+5G>A
NM_001253697.2(ERBIN):c.3759G>T (p.Met1253Ile) rs2151306321
NM_001253697.2(ERBIN):c.3761C>T (p.Pro1254Leu)
NM_001253697.2(ERBIN):c.3773G>A (p.Gly1258Glu) rs2151306347
NM_001253697.2(ERBIN):c.3790C>T (p.Leu1264Phe) rs2151306414
NM_001253697.2(ERBIN):c.3793A>G (p.Arg1265Gly)
NM_001253697.2(ERBIN):c.3795G>C (p.Arg1265Ser)
NM_001253697.2(ERBIN):c.3795G>T (p.Arg1265Ser)
NM_001253697.2(ERBIN):c.379A>G (p.Ile127Val)
NM_001253697.2(ERBIN):c.37C>T (p.Pro13Ser)
NM_001253697.2(ERBIN):c.3803C>A (p.Ala1268Glu)
NM_001253697.2(ERBIN):c.3805A>G (p.Asn1269Asp)
NM_001253697.2(ERBIN):c.3827C>A (p.Pro1276His)
NM_001253697.2(ERBIN):c.3829C>A (p.Pro1277Thr)
NM_001253697.2(ERBIN):c.3832C>G (p.Gln1278Glu)
NM_001253697.2(ERBIN):c.386+11A>T
NM_001253697.2(ERBIN):c.3860G>C (p.Arg1287Thr)
NM_001253697.2(ERBIN):c.3877T>C (p.Tyr1293His)
NM_001253697.2(ERBIN):c.3890A>G (p.Lys1297Arg)
NM_001253697.2(ERBIN):c.3899A>C (p.His1300Pro)
NM_001253697.2(ERBIN):c.3908C>T (p.Pro1303Leu)
NM_001253697.2(ERBIN):c.3924T>G (p.His1308Gln)
NM_001253697.2(ERBIN):c.3926G>A (p.Cys1309Tyr)
NM_001253697.2(ERBIN):c.3928T>G (p.Ser1310Ala)
NM_001253697.2(ERBIN):c.3931C>A (p.Pro1311Thr) rs1435654171
NM_001253697.2(ERBIN):c.3931C>T (p.Pro1311Ser) rs1435654171
NM_001253697.2(ERBIN):c.3931_3933del (p.Pro1311del)
NM_001253697.2(ERBIN):c.3963+4A>G
NM_001253697.2(ERBIN):c.3968G>A (p.Arg1323Gln) rs191439793
NM_001253697.2(ERBIN):c.3968G>T (p.Arg1323Leu)
NM_001253697.2(ERBIN):c.3974G>A (p.Arg1325Lys)
NM_001253697.2(ERBIN):c.3994C>T (p.Leu1332Phe)
NM_001253697.2(ERBIN):c.3995T>G (p.Leu1332Arg)
NM_001253697.2(ERBIN):c.4013G>A (p.Gly1338Asp)
NM_001253697.2(ERBIN):c.4021G>A (p.Gly1341Arg)
NM_001253697.2(ERBIN):c.4034A>G (p.Asn1345Ser)
NM_001253697.2(ERBIN):c.4037C>A (p.Pro1346Gln)
NM_001253697.2(ERBIN):c.4051G>C (p.Asp1351His) rs2151309315
NM_001253697.2(ERBIN):c.4056+3A>G rs1761988258
NM_001253697.2(ERBIN):c.4058G>A (p.Gly1353Asp)
NM_001253697.2(ERBIN):c.407A>T (p.Gln136Leu)
NM_001253697.2(ERBIN):c.4084G>A (p.Glu1362Lys) rs1663158102
NM_001253697.2(ERBIN):c.4090C>G (p.Pro1364Ala)
NM_001253697.2(ERBIN):c.4093G>A (p.Ala1365Thr)
NM_001253697.2(ERBIN):c.4115G>C (p.Gly1372Ala)
NM_001253697.2(ERBIN):c.4144A>G (p.Ser1382Gly)
NM_001253697.2(ERBIN):c.4166G>C (p.Gly1389Ala)
NM_001253697.2(ERBIN):c.4166G>T (p.Gly1389Val)
NM_001253697.2(ERBIN):c.4193T>C (p.Phe1398Ser)
NM_001253697.2(ERBIN):c.4196A>G (p.Gln1399Arg) rs2151316388
NM_001253697.2(ERBIN):c.4223G>A (p.Arg1408Gln)
NM_001253697.2(ERBIN):c.436A>C (p.Asn146His)
NM_001253697.2(ERBIN):c.440A>G (p.Asp147Gly)
NM_001253697.2(ERBIN):c.44G>A (p.Arg15His)
NM_001253697.2(ERBIN):c.468T>A (p.Asn156Lys)
NM_001253697.2(ERBIN):c.471T>G (p.Phe157Leu)
NM_001253697.2(ERBIN):c.476+5A>G
NM_001253697.2(ERBIN):c.477A>G (p.Arg159=)
NM_001253697.2(ERBIN):c.482C>G (p.Thr161Ser)
NM_001253697.2(ERBIN):c.493A>G (p.Ile165Val)
NM_001253697.2(ERBIN):c.534-4A>G
NM_001253697.2(ERBIN):c.538A>G (p.Met180Val)
NM_001253697.2(ERBIN):c.53G>A (p.Arg18Gln)
NM_001253697.2(ERBIN):c.559G>A (p.Glu187Lys)
NM_001253697.2(ERBIN):c.55G>C (p.Gly19Arg)
NM_001253697.2(ERBIN):c.578G>A (p.Ser193Asn)
NM_001253697.2(ERBIN):c.589A>G (p.Thr197Ala)
NM_001253697.2(ERBIN):c.58G>A (p.Glu20Lys)
NM_001253697.2(ERBIN):c.598-3C>T
NM_001253697.2(ERBIN):c.604G>A (p.Val202Ile)
NM_001253697.2(ERBIN):c.624A>G (p.Gly208=)
NM_001253697.2(ERBIN):c.64G>A (p.Glu22Lys) rs2151049233
NM_001253697.2(ERBIN):c.662T>A (p.Phe221Tyr) rs2151145344
NM_001253697.2(ERBIN):c.66G>C (p.Glu22Asp)
NM_001253697.2(ERBIN):c.672+7A>G
NM_001253697.2(ERBIN):c.675del (p.Phe225fs)
NM_001253697.2(ERBIN):c.676A>G (p.Ile226Val)
NM_001253697.2(ERBIN):c.692A>G (p.Gln231Arg)
NM_001253697.2(ERBIN):c.725T>C (p.Ile242Thr) rs939859783
NM_001253697.2(ERBIN):c.736G>A (p.Glu246Lys)
NM_001253697.2(ERBIN):c.741A>C (p.Glu247Asp)
NM_001253697.2(ERBIN):c.759A>C (p.Glu253Asp)
NM_001253697.2(ERBIN):c.762C>G (p.Asn254Lys) rs1756015418
NM_001253697.2(ERBIN):c.772C>G (p.Leu258Val)
NM_001253697.2(ERBIN):c.814A>C (p.Ile272Leu)
NM_001253697.2(ERBIN):c.814A>G (p.Ile272Val)
NM_001253697.2(ERBIN):c.815T>C (p.Ile272Thr)
NM_001253697.2(ERBIN):c.830A>G (p.Asn277Ser)
NM_001253697.2(ERBIN):c.834A>G (p.Ile278Met)
NM_001253697.2(ERBIN):c.839C>A (p.Thr280Lys)
NM_001253697.2(ERBIN):c.839C>T (p.Thr280Met)
NM_001253697.2(ERBIN):c.848T>C (p.Ile283Thr)
NM_001253697.2(ERBIN):c.866T>C (p.Met289Thr)
NM_001253697.2(ERBIN):c.889G>A (p.Gly297Arg)
NM_001253697.2(ERBIN):c.891G>A (p.Gly297=)
NM_001253697.2(ERBIN):c.895A>G (p.Ile299Val)
NM_001253697.2(ERBIN):c.901G>A (p.Val301Ile)
NM_001253697.2(ERBIN):c.910C>A (p.Leu304Met)
NM_001253697.2(ERBIN):c.926A>G (p.Asn309Ser)
NM_001253697.2(ERBIN):c.935A>G (p.Glu312Gly)
NM_001253697.2(ERBIN):c.959A>G (p.Gln320Arg)
NM_001253697.2(ERBIN):c.961C>T (p.Leu321Phe)
NM_001253697.2(ERBIN):c.992A>G (p.His331Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.