ClinVar Miner

List of variants in gene LDB3 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_007078.3(LDB3):c.896+6959C>T rs139415121 0.00968
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro) rs143764931 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_007078.3(LDB3):c.1503C>T (p.Ala501=) rs147692024 0.00024
NM_007078.3(LDB3):c.1911G>A (p.Ala637=) rs150710377 0.00020
NM_007078.3(LDB3):c.1572G>A (p.Ala524=) rs149423035 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_007078.3(LDB3):c.492G>T (p.Pro164=) rs368407147 0.00015
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_007078.3(LDB3):c.794G>A (p.Arg265His) rs45458895 0.00011
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814 0.00010
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141 0.00008
NM_007078.3(LDB3):c.1231+19G>A rs763969244 0.00006
NM_007078.3(LDB3):c.1254G>A (p.Pro418=) rs145942370 0.00006
NM_007078.3(LDB3):c.1521C>T (p.Thr507=) rs200838004 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007078.3(LDB3):c.321+19G>A rs147246015 0.00006
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln) rs143311349 0.00006
NM_007078.3(LDB3):c.543C>T (p.Leu181=) rs148324530 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007078.3(LDB3):c.1728C>T (p.Thr576=) rs749988944 0.00005
NM_007078.3(LDB3):c.2073C>T (p.His691=) rs45486293 0.00005
NM_007078.3(LDB3):c.1965C>G (p.Pro655=) rs181475408 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.318G>A (p.Gln106=) rs760617777 0.00004
NM_007078.3(LDB3):c.435C>T (p.Ala145=) rs144798369 0.00004
NM_007078.3(LDB3):c.498C>A (p.Ala166=) rs780856557 0.00004
NM_007078.3(LDB3):c.564C>T (p.Gly188=) rs753281302 0.00004
NM_007078.3(LDB3):c.689+15T>C rs375094467 0.00004
NM_007078.3(LDB3):c.93+12C>T rs746751581 0.00004
NM_007078.3(LDB3):c.945G>A (p.Pro315=) rs778570461 0.00004
NM_007078.3(LDB3):c.1232-10G>A rs776418612 0.00003
NM_007078.3(LDB3):c.1902C>T (p.Phe634=) rs773904344 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_007078.3(LDB3):c.561G>A (p.Pro187=) rs763643660 0.00003
NM_007078.3(LDB3):c.567G>A (p.Ser189=) rs778777214 0.00003
NM_007078.3(LDB3):c.675C>T (p.Val225=) rs749425278 0.00003
NM_007078.3(LDB3):c.897-10G>A rs77304928 0.00003
NM_007078.3(LDB3):c.900C>A (p.Thr300=) rs760071118 0.00003
NM_007078.3(LDB3):c.918G>A (p.Pro306=) rs371729742 0.00003
NM_007078.3(LDB3):c.1119C>T (p.Ala373=) rs773647394 0.00002
NM_007078.3(LDB3):c.1164C>T (p.Pro388=) rs780108812 0.00002
NM_007078.3(LDB3):c.1442C>G (p.Pro481Arg) rs12761754 0.00002
NM_007078.3(LDB3):c.1548G>A (p.Arg516=) rs376826874 0.00002
NM_007078.3(LDB3):c.162C>T (p.Gly54=) rs757856121 0.00002
NM_007078.3(LDB3):c.1785C>T (p.Asn595=) rs757550916 0.00002
NM_007078.3(LDB3):c.1824G>A (p.Pro608=) rs748428531 0.00002
NM_007078.3(LDB3):c.1858-5C>A rs781763092 0.00002
NM_007078.3(LDB3):c.2124G>A (p.Pro708=) rs759812655 0.00002
NM_007078.3(LDB3):c.246-8T>A rs750671538 0.00002
NM_007078.3(LDB3):c.322-15C>T rs745496095 0.00002
NM_007078.3(LDB3):c.393C>A (p.Gly131=) rs779804488 0.00002
NM_007078.3(LDB3):c.468C>T (p.Ala156=) rs374233873 0.00002
NM_007078.3(LDB3):c.531C>T (p.Ala177=) rs776893998 0.00002
NM_007078.3(LDB3):c.669G>A (p.Ser223=) rs778089838 0.00002
NM_007078.3(LDB3):c.690-20G>A rs371706056 0.00002
NM_007078.3(LDB3):c.859+14C>G rs748281629 0.00002
NM_007078.3(LDB3):c.860-7C>T rs779264739 0.00002
NM_007078.3(LDB3):c.896+6694C>G rs747762937 0.00002
NM_007078.3(LDB3):c.999G>A (p.Ser333=) rs1332348876 0.00002
NM_001368067.1(LDB3):c.798A>G (p.Lys266=) rs370682028 0.00001
NM_001368067.1(LDB3):c.816T>C (p.His272=) rs748780980 0.00001
NM_007078.3(LDB3):c.1017T>G (p.Ala339=) rs727504526 0.00001
NM_007078.3(LDB3):c.1042G>A (p.Ala348Thr) rs529277058 0.00001
NM_007078.3(LDB3):c.1086-12G>A rs772117977 0.00001
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 0.00001
NM_007078.3(LDB3):c.1200T>G (p.Thr400=) rs1447980981 0.00001
NM_007078.3(LDB3):c.1231+14C>G rs1846586366 0.00001
NM_007078.3(LDB3):c.1232-18T>A rs764158731 0.00001
NM_007078.3(LDB3):c.1332C>T (p.Ala444=) rs1441065258 0.00001
NM_007078.3(LDB3):c.1434C>T (p.Ser478=) rs1273006981 0.00001
NM_007078.3(LDB3):c.1562A>G (p.Tyr521Cys) rs535737552 0.00001
NM_007078.3(LDB3):c.1605C>T (p.Thr535=) rs727505207 0.00001
NM_007078.3(LDB3):c.1677-11T>C rs779076719 0.00001
NM_007078.3(LDB3):c.1827G>A (p.Leu609=) rs1217545964 0.00001
NM_007078.3(LDB3):c.1851T>C (p.Ile617=) rs145402041 0.00001
NM_007078.3(LDB3):c.1857+15T>A rs1408850535 0.00001
NM_007078.3(LDB3):c.1869T>C (p.His623=) rs1846966684 0.00001
NM_007078.3(LDB3):c.1890C>T (p.His630=) rs748921017 0.00001
NM_007078.3(LDB3):c.1917C>T (p.Cys639=) rs1190390565 0.00001
NM_007078.3(LDB3):c.1947C>T (p.His649=) rs555375533 0.00001
NM_007078.3(LDB3):c.2025C>T (p.Pro675=) rs876657490 0.00001
NM_007078.3(LDB3):c.2049C>T (p.Ile683=) rs377178682 0.00001
NM_007078.3(LDB3):c.2157G>A (p.Lys719=) rs758201230 0.00001
NM_007078.3(LDB3):c.2163C>T (p.His721=) rs556787635 0.00001
NM_007078.3(LDB3):c.21G>T (p.Leu7=) rs367818009 0.00001
NM_007078.3(LDB3):c.234C>A (p.Leu78=) rs947293580 0.00001
NM_007078.3(LDB3):c.246-4A>G rs370264195 0.00001
NM_007078.3(LDB3):c.303G>A (p.Pro101=) rs559350698 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.322-20C>T rs199536065 0.00001
NM_007078.3(LDB3):c.322-8T>C rs1346147675 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_007078.3(LDB3):c.348C>T (p.Ser116=) rs1060504200 0.00001
NM_007078.3(LDB3):c.396C>T (p.Thr132=) rs768251789 0.00001
NM_007078.3(LDB3):c.447C>T (p.Pro149=) rs1245240747 0.00001
NM_007078.3(LDB3):c.507G>A (p.Arg169=) rs1475637979 0.00001
NM_007078.3(LDB3):c.51G>A (p.Leu17=) rs752452361 0.00001
NM_007078.3(LDB3):c.540A>G (p.Leu180=) rs1283051092 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.645G>A (p.Gln215=) rs957930268 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.783C>T (p.Asp261=) rs45470296 0.00001
NM_007078.3(LDB3):c.816T>C (p.Ser272=) rs1012940823 0.00001
NM_007078.3(LDB3):c.831C>T (p.Ile277=) rs752273360 0.00001
NM_007078.3(LDB3):c.846G>A (p.Thr282=) rs1026972237 0.00001
NM_007078.3(LDB3):c.888A>G (p.Arg296=) rs776143895 0.00001
NM_007078.3(LDB3):c.93+18C>T rs1412849750 0.00001
NM_007078.3(LDB3):c.94-9T>C rs1282721488 0.00001
NM_001368067.1(LDB3):c.813C>T (p.His271=)
NM_001368067.1(LDB3):c.837T>C (p.Leu279=)
NM_001368067.1(LDB3):c.849C>T (p.Ser283=) rs1846156972
NM_007078.3(LDB3):c.1041C>T (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1047C>T (p.Ser349=)
NM_007078.3(LDB3):c.1053A>T (p.Thr351=) rs2132458705
NM_007078.3(LDB3):c.1085+11C>T rs1589663977
NM_007078.3(LDB3):c.1085+15G>C rs1346203787
NM_007078.3(LDB3):c.1092G>A (p.Gln364=) rs2132465919
NM_007078.3(LDB3):c.1110C>T (p.Pro370=)
NM_007078.3(LDB3):c.114A>C (p.Ala38=)
NM_007078.3(LDB3):c.117C>G (p.Ala39=)
NM_007078.3(LDB3):c.1231+16G>A
NM_007078.3(LDB3):c.1231+7G>A rs949994168
NM_007078.3(LDB3):c.1232-14T>G rs1486608602
NM_007078.3(LDB3):c.1232-8T>G rs1256222888
NM_007078.3(LDB3):c.1236T>C (p.Pro412=) rs1846868091
NM_007078.3(LDB3):c.123C>T (p.Ser41=) rs147548646
NM_007078.3(LDB3):c.12T>C (p.Ser4=)
NM_007078.3(LDB3):c.1302C>G (p.Ala434=) rs1291822613
NM_007078.3(LDB3):c.1314C>A (p.Thr438=)
NM_007078.3(LDB3):c.1317C>T (p.Pro439=) rs397517208
NM_007078.3(LDB3):c.1320C>A (p.Ser440=) rs753917548
NM_007078.3(LDB3):c.1407T>C (p.Tyr469=)
NM_007078.3(LDB3):c.1419C>T (p.Pro473=)
NM_007078.3(LDB3):c.144C>A (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.144C>G (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.144C>T (p.Leu48=) rs397517213
NM_007078.3(LDB3):c.1458C>T (p.Ser486=) rs2132482407
NM_007078.3(LDB3):c.147G>C (p.Val49=) rs45591834
NM_007078.3(LDB3):c.147G>T (p.Val49=)
NM_007078.3(LDB3):c.1515C>T (p.Ser505=)
NM_007078.3(LDB3):c.1563C>T (p.Tyr521=) rs1846888210
NM_007078.3(LDB3):c.1587A>G (p.Pro529=) rs2132482785
NM_007078.3(LDB3):c.1605C>A (p.Thr535=) rs727505207
NM_007078.3(LDB3):c.1611G>A (p.Gln537=) rs2132482906
NM_007078.3(LDB3):c.1676+19C>T rs2132483146
NM_007078.3(LDB3):c.1676+7T>C
NM_007078.3(LDB3):c.1677-20G>A rs995596521
NM_007078.3(LDB3):c.1677-9C>T rs2132485273
NM_007078.3(LDB3):c.168C>T (p.Asn56=)
NM_007078.3(LDB3):c.171A>G (p.Thr57=) rs754796151
NM_007078.3(LDB3):c.1752G>T (p.Leu584=)
NM_007078.3(LDB3):c.1779G>A (p.Gln593=) rs1291914478
NM_007078.3(LDB3):c.177C>A (p.Thr59=) rs1844990322
NM_007078.3(LDB3):c.1791C>T (p.Tyr597=)
NM_007078.3(LDB3):c.1794T>C (p.Cys598=) rs2132485636
NM_007078.3(LDB3):c.183C>T (p.Thr61=)
NM_007078.3(LDB3):c.1857+12G>A
NM_007078.3(LDB3):c.1872C>G (p.Ala624=) rs2132487109
NM_007078.3(LDB3):c.18C>G (p.Thr6=)
NM_007078.3(LDB3):c.1941C>G (p.Leu647=) rs2132487385
NM_007078.3(LDB3):c.1944C>T (p.Phe648=) rs2132487394
NM_007078.3(LDB3):c.195C>A (p.Ala65=)
NM_007078.3(LDB3):c.1978+9A>C rs1060504199
NM_007078.3(LDB3):c.1979-7A>G rs1452733136
NM_007078.3(LDB3):c.2010T>C (p.His670=) rs759857527
NM_007078.3(LDB3):c.2094+18G>A
NM_007078.3(LDB3):c.2095-14G>T rs2132517810
NM_007078.3(LDB3):c.210G>A (p.Lys70=)
NM_007078.3(LDB3):c.2130C>T (p.Tyr710=) rs752415111
NM_007078.3(LDB3):c.2145A>G (p.Arg715=) rs1589691797
NM_007078.3(LDB3):c.226T>C (p.Leu76=)
NM_007078.3(LDB3):c.240G>A (p.Leu80=)
NM_007078.3(LDB3):c.245+20_245+24del
NM_007078.3(LDB3):c.245+7G>A rs2132360859
NM_007078.3(LDB3):c.246-13C>A
NM_007078.3(LDB3):c.252G>A (p.Lys84=)
NM_007078.3(LDB3):c.258C>T (p.Pro86=)
NM_007078.3(LDB3):c.285A>C (p.Pro95=) rs2132363687
NM_007078.3(LDB3):c.309C>A (p.Ile103=) rs1060504198
NM_007078.3(LDB3):c.30C>T (p.Pro10=) rs766817285
NM_007078.3(LDB3):c.321+16G>A rs1461402519
NM_007078.3(LDB3):c.321+18C>T
NM_007078.3(LDB3):c.321+19G>C
NM_007078.3(LDB3):c.321+9T>G
NM_007078.3(LDB3):c.322-14C>T
NM_007078.3(LDB3):c.322-16G>A
NM_007078.3(LDB3):c.322-5G>A
NM_007078.3(LDB3):c.322-6_322-5del
NM_007078.3(LDB3):c.323A>C (p.Asp108Ala)
NM_007078.3(LDB3):c.325C>T (p.Pro109Ser)
NM_007078.3(LDB3):c.327C>T (p.Pro109=)
NM_007078.3(LDB3):c.341A>G (p.Asn114Ser)
NM_007078.3(LDB3):c.369C>T (p.Ser123=)
NM_007078.3(LDB3):c.372T>C (p.Pro124=)
NM_007078.3(LDB3):c.378G>T (p.Ala126=) rs149872184
NM_007078.3(LDB3):c.384C>T (p.Ala128=)
NM_007078.3(LDB3):c.390AGGCACCCC[3] (p.131GTP[3]) rs750334087
NM_007078.3(LDB3):c.399A>T (p.Pro133=) rs769713715
NM_007078.3(LDB3):c.402C>G (p.Gly134=)
NM_007078.3(LDB3):c.407C>G (p.Pro136Arg)
NM_007078.3(LDB3):c.408G>A (p.Pro136=) rs375626151
NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)
NM_007078.3(LDB3):c.444G>C (p.Arg148=) rs754596106
NM_007078.3(LDB3):c.445C>T (p.Pro149Ser)
NM_007078.3(LDB3):c.450C>T (p.Ser150=) rs878854907
NM_007078.3(LDB3):c.465C>A (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.468C>G (p.Ala156=)
NM_007078.3(LDB3):c.470A>G (p.Glu157Gly)
NM_007078.3(LDB3):c.485G>A (p.Gly162Asp)
NM_007078.3(LDB3):c.489T>A (p.Pro163=)
NM_007078.3(LDB3):c.492G>A (p.Pro164=) rs368407147
NM_007078.3(LDB3):c.493C>A (p.Arg165=) rs45610637
NM_007078.3(LDB3):c.495G>A (p.Arg165=)
NM_007078.3(LDB3):c.497C>A (p.Ala166Asp)
NM_007078.3(LDB3):c.500G>A (p.Ser167Asn)
NM_007078.3(LDB3):c.508G>A (p.Ala170Thr)
NM_007078.3(LDB3):c.523G>A (p.Glu175Lys)
NM_007078.3(LDB3):c.528G>A (p.Gly176=) rs557479871
NM_007078.3(LDB3):c.528G>C (p.Gly176=)
NM_007078.3(LDB3):c.528G>T (p.Gly176=)
NM_007078.3(LDB3):c.543C>G (p.Leu181=)
NM_007078.3(LDB3):c.546C>T (p.Gly182=)
NM_007078.3(LDB3):c.565T>G (p.Ser189Ala)
NM_007078.3(LDB3):c.573G>A (p.Gln191=)
NM_007078.3(LDB3):c.578G>A (p.Arg193Lys)
NM_007078.3(LDB3):c.584A>G (p.Tyr195Cys)
NM_007078.3(LDB3):c.591C>T (p.Asn197=)
NM_007078.3(LDB3):c.603G>A (p.Leu201=)
NM_007078.3(LDB3):c.615G>A (p.Glu205=)
NM_007078.3(LDB3):c.616A>G (p.Thr206Ala)
NM_007078.3(LDB3):c.635A>T (p.Gln212Leu)
NM_007078.3(LDB3):c.663G>A (p.Lys221=)
NM_007078.3(LDB3):c.672T>C (p.Gly224=) rs2132373056
NM_007078.3(LDB3):c.675C>G (p.Val225=) rs749425278
NM_007078.3(LDB3):c.689+11G>A
NM_007078.3(LDB3):c.689+12A>G
NM_007078.3(LDB3):c.689+8A>G rs2132373164
NM_007078.3(LDB3):c.690-12T>C rs754482860
NM_007078.3(LDB3):c.690-13C>G rs978286642
NM_007078.3(LDB3):c.690-9G>A
NM_007078.3(LDB3):c.72C>T (p.Asn24=)
NM_007078.3(LDB3):c.735C>T (p.Val245=) rs1329610577
NM_007078.3(LDB3):c.792A>G (p.Ala264=) rs1589644038
NM_007078.3(LDB3):c.828C>T (p.Arg276=)
NM_007078.3(LDB3):c.834G>A (p.Leu278=)
NM_007078.3(LDB3):c.846G>T (p.Thr282=) rs1026972237
NM_007078.3(LDB3):c.859+15T>C
NM_007078.3(LDB3):c.859+9A>C
NM_007078.3(LDB3):c.859+9A>T
NM_007078.3(LDB3):c.860-15C>T rs727503126
NM_007078.3(LDB3):c.860-20C>G
NM_007078.3(LDB3):c.860-20C>T
NM_007078.3(LDB3):c.896+6669TC[4]
NM_007078.3(LDB3):c.896+6687T>G
NM_007078.3(LDB3):c.896+6696C>G
NM_007078.3(LDB3):c.896+6701C>T
NM_007078.3(LDB3):c.897-11C>T rs766463668
NM_007078.3(LDB3):c.897-17T>C
NM_007078.3(LDB3):c.897-4T>A rs2132458092
NM_007078.3(LDB3):c.903T>G (p.Pro301=)
NM_007078.3(LDB3):c.93+10C>A rs1222755412
NM_007078.3(LDB3):c.93+10C>T
NM_007078.3(LDB3):c.93+17A>G rs2132320735
NM_007078.3(LDB3):c.93+7G>T rs397517229
NM_007078.3(LDB3):c.94-13A>G
NM_007078.3(LDB3):c.94-14C>T
NM_007078.3(LDB3):c.94-17C>T
NM_007078.3(LDB3):c.94-20C>G
NM_007078.3(LDB3):c.94-20C>T rs779928559

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