ClinVar Miner

List of variants reported as likely benign for X-linked Emery-Dreifuss muscular dystrophy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 354
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001159699.2(FHL1):c.225C>A (p.Arg75=) rs143791173 0.00037
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys) rs367592190 0.00023
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_001159699.2(FHL1):c.380-7T>C rs759571993 0.00010
NM_001159699.2(FHL1):c.737-11_737-8del rs754404850 0.00010
NM_000117.3(EMD):c.188-18C>G rs376439797 0.00009
NM_000117.3(EMD):c.450-12C>T rs1185461600 0.00009
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_001159699.2(FHL1):c.736+8A>G rs376754350 0.00007
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000117.3(EMD):c.108G>A (p.Lys36=) rs1057521050 0.00005
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) rs755900253 0.00005
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885 0.00005
NM_001159699.2(FHL1):c.550-15C>A rs764137409 0.00005
NM_001159699.2(FHL1):c.696T>C (p.Phe232=) rs758030097 0.00005
NM_001159699.2(FHL1):c.737-18C>T rs866716263 0.00005
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.183C>T (p.Phe61=) rs782643028 0.00004
NM_000117.3(EMD):c.30C>G (p.Thr10=) rs145781828 0.00004
NM_000117.3(EMD):c.459C>T (p.Pro153=) rs782147479 0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151 0.00004
NM_001159699.2(FHL1):c.243C>T (p.Cys81=) rs777580253 0.00004
NM_001159699.2(FHL1):c.651C>T (p.Thr217=) rs370597064 0.00004
NM_001159699.2(FHL1):c.737-10T>C rs767421819 0.00004
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.243C>T (p.Asp81=) rs150757295 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.390C>T (p.Phe130=) rs781952981 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.39C>A (p.Thr13=) rs1352660201 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.469C>T (p.Arg157Trp) rs782431693 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000117.3(EMD):c.672G>A (p.Pro224=) rs1267603257 0.00003
NM_000117.3(EMD):c.677G>C (p.Trp226Ser) rs141732118 0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874 0.00003
NM_001159699.2(FHL1):c.549+7T>G rs771700018 0.00003
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001159699.2(FHL1):c.816C>T (p.Ser272=) rs758552293 0.00003
NM_001159699.2(FHL1):c.834G>A (p.Lys278=) rs200510559 0.00003
NM_000117.3(EMD):c.188-13C>T rs782141516 0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000117.3(EMD):c.333C>T (p.Ala111=) rs782216150 0.00002
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.449+10G>C rs782467790 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.717C>T (p.Leu239=) rs782369799 0.00002
NM_000117.3(EMD):c.82+17G>A rs1198190299 0.00002
NM_001159699.2(FHL1):c.204+18G>T rs764595951 0.00002
NM_001159699.2(FHL1):c.205-9G>C rs1178092343 0.00002
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579 0.00002
NM_001159699.2(FHL1):c.534C>T (p.Cys178=) rs377693754 0.00002
NM_001159699.2(FHL1):c.573T>G (p.Thr191=) rs2073910530 0.00002
NM_001159699.2(FHL1):c.612T>C (p.Cys204=) rs752193492 0.00002
NM_001159699.2(FHL1):c.737-12_737-8del rs761074507 0.00002
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg) rs768705041 0.00002
NM_000117.3(EMD):c.117C>T (p.Phe39=) rs782334564 0.00001
NM_000117.3(EMD):c.129C>T (p.Thr43=) rs781938390 0.00001
NM_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00001
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 0.00001
NM_000117.3(EMD):c.15A>G (p.Ala5=) rs1365728244 0.00001
NM_000117.3(EMD):c.168C>T (p.Ala56=) rs782087009 0.00001
NM_000117.3(EMD):c.188-16C>T rs1269992805 0.00001
NM_000117.3(EMD):c.198G>T (p.Ser66=) rs1557182359 0.00001
NM_000117.3(EMD):c.240G>A (p.Glu80=) rs782641259 0.00001
NM_000117.3(EMD):c.252C>T (p.Leu84=) rs782612830 0.00001
NM_000117.3(EMD):c.266-19C>T rs1057522166 0.00001
NM_000117.3(EMD):c.297C>T (p.Tyr99=) rs1010675678 0.00001
NM_000117.3(EMD):c.306C>T (p.Thr102=) rs782579799 0.00001
NM_000117.3(EMD):c.315T>C (p.Tyr105=) rs1342409944 0.00001
NM_000117.3(EMD):c.330T>G (p.Ser110=) rs782666989 0.00001
NM_000117.3(EMD):c.400-4G>T rs782029952 0.00001
NM_000117.3(EMD):c.400-6C>T rs782396776 0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr) rs782110153 0.00001
NM_000117.3(EMD):c.423T>G (p.Ser141=) rs1209782193 0.00001
NM_000117.3(EMD):c.444G>A (p.Lys148=) rs781889750 0.00001
NM_000117.3(EMD):c.449+12G>A rs1557182578 0.00001
NM_000117.3(EMD):c.450-13T>C rs375480222 0.00001
NM_000117.3(EMD):c.450-19C>T rs1557182589 0.00001
NM_000117.3(EMD):c.489C>T (p.Ser163=) rs782558454 0.00001
NM_000117.3(EMD):c.492C>T (p.Ile164=) rs1286873712 0.00001
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_000117.3(EMD):c.603C>T (p.Leu201=) rs1557182663 0.00001
NM_000117.3(EMD):c.702C>T (p.Val234=) rs1057521076 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000117.3(EMD):c.735C>T (p.Phe245=) rs782312045 0.00001
NM_000117.3(EMD):c.82+9C>T rs1422586674 0.00001
NM_000117.3(EMD):c.83-18C>T rs782577051 0.00001
NM_001159699.2(FHL1):c.159C>T (p.Ala53=) rs1458693544 0.00001
NM_001159699.2(FHL1):c.165C>T (p.Thr55=) rs770499208 0.00001
NM_001159699.2(FHL1):c.168T>C (p.Cys56=) rs1192668098 0.00001
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001
NM_001159699.2(FHL1):c.195G>A (p.Ala65=) rs1394298803 0.00001
NM_001159699.2(FHL1):c.213C>T (p.His71=) rs917304507 0.00001
NM_001159699.2(FHL1):c.379+8C>T rs1278172802 0.00001
NM_001159699.2(FHL1):c.380-9C>A rs766762163 0.00001
NM_001159699.2(FHL1):c.501G>A (p.Val167=) rs765313795 0.00001
NM_001159699.2(FHL1):c.519G>A (p.Lys173=) rs750331409 0.00001
NM_001159699.2(FHL1):c.531T>C (p.His177=) rs1268549852 0.00001
NM_001159699.2(FHL1):c.537G>C (p.Val179=) rs753535765 0.00001
NM_001159699.2(FHL1):c.550-10C>T rs376922604 0.00001
NM_001159699.2(FHL1):c.550-4C>T rs1188178386 0.00001
NM_001159699.2(FHL1):c.60G>A (p.Lys20=) rs1297632047 0.00001
NM_001159699.2(FHL1):c.708G>A (p.Lys236=) rs1253823085 0.00001
NM_001159699.2(FHL1):c.711T>C (p.Cys237=) rs757798011 0.00001
NM_001159699.2(FHL1):c.729C>G (p.Pro243=) rs1060504733 0.00001
NM_001159699.2(FHL1):c.736+18T>C rs774416768 0.00001
NM_001159699.2(FHL1):c.737-14T>C rs769912263 0.00001
NM_001159699.2(FHL1):c.789C>T (p.Asp263=) rs1057523997 0.00001
NM_001159699.2(FHL1):c.861G>T (p.Val287=) rs886043219 0.00001
NM_001159699.2(FHL1):c.870C>T (p.Pro290=) rs775356347 0.00001
NM_001159702.3(FHL1):c.714C>T (p.Ser238=) rs780429969 0.00001
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1] rs1463296648
NM_000117.3(EMD):c.102C>T (p.Tyr34=)
NM_000117.3(EMD):c.105G>A (p.Glu35=)
NM_000117.3(EMD):c.114C>A (p.Ile38=) rs2148128131
NM_000117.3(EMD):c.114C>T (p.Ile38=) rs2148128131
NM_000117.3(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.3(EMD):c.153C>G (p.Pro51=) rs782051850
NM_000117.3(EMD):c.153C>T (p.Pro51=) rs782051850
NM_000117.3(EMD):c.162C>T (p.Ser54=)
NM_000117.3(EMD):c.180C>T (p.Ser60=)
NM_000117.3(EMD):c.187+11C>A
NM_000117.3(EMD):c.187+12G>C
NM_000117.3(EMD):c.187+13C>T
NM_000117.3(EMD):c.187+16G>T
NM_000117.3(EMD):c.187+18G>A
NM_000117.3(EMD):c.187+7G>A
NM_000117.3(EMD):c.187+7G>T
NM_000117.3(EMD):c.188-12C>G
NM_000117.3(EMD):c.188-14T>C
NM_000117.3(EMD):c.188-15C>G
NM_000117.3(EMD):c.188-18C>T
NM_000117.3(EMD):c.188-20del
NM_000117.3(EMD):c.188-4C>T rs1557182352
NM_000117.3(EMD):c.188-6A>T rs2148128297
NM_000117.3(EMD):c.188-7A>G rs2148128296
NM_000117.3(EMD):c.188-8C>G
NM_000117.3(EMD):c.189C>T (p.Asp63=) rs2148128303
NM_000117.3(EMD):c.207G>A (p.Gly69=) rs1557182361
NM_000117.3(EMD):c.231C>G (p.Pro77=)
NM_000117.3(EMD):c.231C>T (p.Pro77=) rs2148128330
NM_000117.3(EMD):c.246T>A (p.Ala82=) rs2148128347
NM_000117.3(EMD):c.249A>G (p.Leu83=)
NM_000117.3(EMD):c.255C>T (p.Tyr85=) rs1303189631
NM_000117.3(EMD):c.265+10G>A
NM_000117.3(EMD):c.265+11G>T
NM_000117.3(EMD):c.265+12G>T
NM_000117.3(EMD):c.265+17G>A
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA
NM_000117.3(EMD):c.265+8A>G
NM_000117.3(EMD):c.266-10C>T rs2067879183
NM_000117.3(EMD):c.266-10_266-9del
NM_000117.3(EMD):c.266-13C>A
NM_000117.3(EMD):c.266-13C>T
NM_000117.3(EMD):c.266-19del
NM_000117.3(EMD):c.266-9C>G
NM_000117.3(EMD):c.266-9C>T rs782152177
NM_000117.3(EMD):c.270C>T (p.Tyr90=) rs2148128465
NM_000117.3(EMD):c.285T>C (p.Tyr95=) rs2148128483
NM_000117.3(EMD):c.294C>T (p.Ser98=) rs2148128485
NM_000117.3(EMD):c.303C>T (p.Thr101=)
NM_000117.3(EMD):c.309G>A (p.Arg103=) rs2148128497
NM_000117.3(EMD):c.30C>T (p.Thr10=)
NM_000117.3(EMD):c.311C>A (p.Thr104Asn) rs1245332627
NM_000117.3(EMD):c.321G>A (p.Glu107=) rs1452250882
NM_000117.3(EMD):c.327G>A (p.Glu109=)
NM_000117.3(EMD):c.330T>A (p.Ser110=) rs782666989
NM_000117.3(EMD):c.330T>C (p.Ser110=) rs782666989
NM_000117.3(EMD):c.339G>A (p.Pro113=) rs2148128524
NM_000117.3(EMD):c.33G>A (p.Glu11=) rs782121776
NM_000117.3(EMD):c.33G>C (p.Glu11Asp) rs782121776
NM_000117.3(EMD):c.351C>T (p.Val117=) rs2148128529
NM_000117.3(EMD):c.369A>G (p.Ser123=) rs2148128541
NM_000117.3(EMD):c.384C>T (p.Asp128=) rs1603365838
NM_000117.3(EMD):c.399+16G>A
NM_000117.3(EMD):c.399+18C>A rs182540760
NM_000117.3(EMD):c.399+19G>A
NM_000117.3(EMD):c.399+19G>T
NM_000117.3(EMD):c.39C>T (p.Thr13=) rs1352660201
NM_000117.3(EMD):c.400-11C>T
NM_000117.3(EMD):c.400-12T>A
NM_000117.3(EMD):c.400-13C>T
NM_000117.3(EMD):c.400-15G>A
NM_000117.3(EMD):c.400-15G>C
NM_000117.3(EMD):c.400-17C>G
NM_000117.3(EMD):c.402G>C (p.Val134=) rs2148128710
NM_000117.3(EMD):c.408T>C (p.Asp136=) rs1569552096
NM_000117.3(EMD):c.411C>T (p.Asp137=) rs2148128718
NM_000117.3(EMD):c.438G>A (p.Glu146=)
NM_000117.3(EMD):c.449+10G>T rs782467790
NM_000117.3(EMD):c.449+17C>G
NM_000117.3(EMD):c.449+18C>A
NM_000117.3(EMD):c.449+20A>T
NM_000117.3(EMD):c.449+7A>G
NM_000117.3(EMD):c.450-11T>C
NM_000117.3(EMD):c.450-13T>G rs375480222
NM_000117.3(EMD):c.450-14C>G
NM_000117.3(EMD):c.450-17C>G
NM_000117.3(EMD):c.450-17C>T
NM_000117.3(EMD):c.450-6C>T
NM_000117.3(EMD):c.450-8T>C
NM_000117.3(EMD):c.456C>T (p.Arg152=) rs2148128787
NM_000117.3(EMD):c.459C>G (p.Pro153=) rs782147479
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.46C>T (p.Leu16=) rs2148127980
NM_000117.3(EMD):c.48G>T (p.Leu16=)
NM_000117.3(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.3(EMD):c.510T>C (p.Val170=) rs2148128835
NM_000117.3(EMD):c.516C>T (p.Ala172=)
NM_000117.3(EMD):c.520A>C (p.Arg174=)
NM_000117.3(EMD):c.529C>T (p.Leu177=)
NM_000117.3(EMD):c.534C>T (p.Asp178=) rs1430510939
NM_000117.3(EMD):c.535C>T (p.Leu179=) rs1260147167
NM_000117.3(EMD):c.543T>C (p.Tyr181=)
NM_000117.3(EMD):c.549T>C (p.Pro183=) rs886044848
NM_000117.3(EMD):c.555C>T (p.Ser185=)
NM_000117.3(EMD):c.558C>T (p.Ser186=) rs2148128859
NM_000117.3(EMD):c.561C>T (p.Ser187=)
NM_000117.3(EMD):c.576C>G (p.Ser192=)
NM_000117.3(EMD):c.579C>A (p.Ser193=) rs781952637
NM_000117.3(EMD):c.582A>G (p.Ser194=) rs781933286
NM_000117.3(EMD):c.591C>G (p.Ser197=) rs1227767189
NM_000117.3(EMD):c.591C>T (p.Ser197=) rs1227767189
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.621G>C (p.Arg207=)
NM_000117.3(EMD):c.639T>G (p.Pro213=)
NM_000117.3(EMD):c.63C>T (p.Ile21=)
NM_000117.3(EMD):c.663C>T (p.Arg221=)
NM_000117.3(EMD):c.669C>T (p.Val223=)
NM_000117.3(EMD):c.66G>A (p.Pro22=)
NM_000117.3(EMD):c.66G>T (p.Pro22=)
NM_000117.3(EMD):c.672G>C (p.Pro224=)
NM_000117.3(EMD):c.681C>A (p.Gly227=)
NM_000117.3(EMD):c.688C>T (p.Leu230=) rs980424914
NM_000117.3(EMD):c.697C>T (p.Leu233=) rs1603366026
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.718T>C (p.Phe240Leu)
NM_000117.3(EMD):c.720C>T (p.Phe240=) rs2067886666
NM_000117.3(EMD):c.723C>T (p.Phe241=)
NM_000117.3(EMD):c.741G>A (p.Gln247=)
NM_000117.3(EMD):c.762C>T (p.Phe254=) rs1603366051
NM_000117.3(EMD):c.82+12C>T
NM_000117.3(EMD):c.82+19G>C
NM_000117.3(EMD):c.82+20A>C
NM_000117.3(EMD):c.83-12G>A
NM_000117.3(EMD):c.83-13C>T
NM_000117.3(EMD):c.83-16C>T
NM_000117.3(EMD):c.83-17G>A rs782637320
NM_000117.3(EMD):c.83-9T>C
NM_000117.3(EMD):c.87A>G (p.Ser29=)
NM_000117.3(EMD):c.96G>A (p.Arg32=)
NM_000117.3(EMD):c.9C>T (p.Asn3=)
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
NM_001159699.2(FHL1):c.108G>A (p.Val36=) rs2073842775
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
NM_001159699.2(FHL1):c.135G>A (p.Leu45=) rs1603270464
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
NM_001159699.2(FHL1):c.183G>A (p.Lys61=) rs780792982
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
NM_001159699.2(FHL1):c.204+17T>C
NM_001159699.2(FHL1):c.204+7G>C
NM_001159699.2(FHL1):c.205-13G>A
NM_001159699.2(FHL1):c.205-14T>C
NM_001159699.2(FHL1):c.205-19C>T
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
NM_001159699.2(FHL1):c.309C>A (p.Ile103=) rs372049507
NM_001159699.2(FHL1):c.379+10C>T rs2148373876
NM_001159699.2(FHL1):c.379+11C>T
NM_001159699.2(FHL1):c.379+18C>T rs2148373890
NM_001159699.2(FHL1):c.379+19C>A
NM_001159699.2(FHL1):c.379+19C>T
NM_001159699.2(FHL1):c.379+7C>T
NM_001159699.2(FHL1):c.380-10C>G
NM_001159699.2(FHL1):c.380-14G>A
NM_001159699.2(FHL1):c.380-16T>G
NM_001159699.2(FHL1):c.380-6C>T
NM_001159699.2(FHL1):c.380-9C>T rs766762163
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
NM_001159699.2(FHL1):c.393G>A (p.Val131=) rs2148375546
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
NM_001159699.2(FHL1):c.432C>G (p.Thr144=) rs1603271583
NM_001159699.2(FHL1):c.432C>T (p.Thr144=) rs1603271583
NM_001159699.2(FHL1):c.456C>A (p.Ile152=) rs747594885
NM_001159699.2(FHL1):c.471C>T (p.Phe157=) rs2148376029
NM_001159699.2(FHL1):c.510T>C (p.His170=) rs1603271708
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
NM_001159699.2(FHL1):c.549+20C>T
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
NM_001159699.2(FHL1):c.550-13C>T
NM_001159699.2(FHL1):c.550-15C>T rs764137409
NM_001159699.2(FHL1):c.550-16A>G
NM_001159699.2(FHL1):c.550-18C>G
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
NM_001159699.2(FHL1):c.558A>G (p.Thr186=) rs2148378187
NM_001159699.2(FHL1):c.585G>A (p.Gln195=) rs2148378283
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
NM_001159699.2(FHL1):c.63T>C (p.Phe21=) rs2073841797
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=) rs1603272258
NM_001159699.2(FHL1):c.726C>T (p.Asn242=) rs781537817
NM_001159699.2(FHL1):c.729C>A (p.Pro243=) rs1060504733
NM_001159699.2(FHL1):c.736+9A>T
NM_001159699.2(FHL1):c.737-10T>G
NM_001159699.2(FHL1):c.737-11T>C
NM_001159699.2(FHL1):c.737-13T>G
NM_001159699.2(FHL1):c.737-13_737-9del rs374867802
NM_001159699.2(FHL1):c.737-14_737-13insCTTT rs767661713
NM_001159699.2(FHL1):c.737-16T>C
NM_001159699.2(FHL1):c.737-18_737-15del rs2148383206
NM_001159699.2(FHL1):c.737-22_737-19del
NM_001159699.2(FHL1):c.737-6C>T
NM_001159699.2(FHL1):c.737-7C>T rs774150299
NM_001159699.2(FHL1):c.737-8C>A rs2076705
NM_001159699.2(FHL1):c.737-9_737-8delinsCT rs1603273550
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
NM_001159699.2(FHL1):c.753C>T (p.Ser251=) rs2148383466
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=) rs2148371522
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
NM_001159699.2(FHL1):c.816C>A (p.Ser272=) rs758552293
NM_001159699.2(FHL1):c.819G>C (p.Val273=) rs2148383774
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
NM_001159699.2(FHL1):c.852G>A (p.Gln284=) rs774024150
NM_001159699.2(FHL1):c.855G>A (p.Glu285=) rs1556639756
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser) rs1603272887

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