ClinVar Miner

List of variants reported as uncertain significance for myopathy, centronuclear, 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224

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