ClinVar Miner

List of variants in gene LARGE1 reported as benign for not provided

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.-82-269A>G rs238859 0.90462
NM_133642.5(LARGE1):c.-83+62952T>C rs1009383 0.81885
NM_133642.5(LARGE1):c.-83+63438C>T rs2277840 0.81847
NM_133642.5(LARGE1):c.615+191A>G rs695504 0.59717
NM_133642.5(LARGE1):c.787+158T>C rs713795 0.39970
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.1288-214G>A rs2285105 0.29048
NM_133642.5(LARGE1):c.1132-208G>A rs2285106 0.28141
NM_133642.5(LARGE1):c.615+246A>G rs2239746 0.26150
NM_133642.5(LARGE1):c.615+139G>C rs695258 0.26121
NM_133642.5(LARGE1):c.788-330A>C rs2280978 0.14711
NM_133642.5(LARGE1):c.1132-153C>T rs2157198 0.13774
NM_133642.5(LARGE1):c.1132-175A>G rs2157199 0.13762
NM_133642.5(LARGE1):c.1132-190G>T rs2157200 0.13752
NM_133642.5(LARGE1):c.893-235T>G rs76972817 0.11531
NM_133642.5(LARGE1):c.408+144G>A rs5994783 0.11500
NM_133642.5(LARGE1):c.787+286G>T rs5999013 0.11071
NM_133642.5(LARGE1):c.1287+105G>C rs16992166 0.10729
NM_133642.5(LARGE1):c.1006-195G>A rs16992223 0.09734
NM_133642.5(LARGE1):c.1131+258C>G rs11912366 0.09699
NM_133642.5(LARGE1):c.1731-91C>G rs1018365 0.09684
NM_133642.5(LARGE1):c.408+247G>A rs9621740 0.09675
NM_133642.5(LARGE1):c.1877+183C>T rs17795326 0.08458
NM_133642.5(LARGE1):c.409-65del rs68171942 0.07537
NM_133642.5(LARGE1):c.1730+67A>G rs78116727 0.06015
NM_133642.5(LARGE1):c.787+120G>C rs3213513 0.05608
NM_133642.5(LARGE1):c.1730+286A>G rs73166234 0.05185
NM_133642.5(LARGE1):c.788-181G>A rs73166278 0.04905
NM_133642.5(LARGE1):c.2074-69C>T rs41282597 0.04735
NM_133642.5(LARGE1):c.892+79T>G rs16992336 0.04142
NM_133642.5(LARGE1):c.1452-225C>G rs79665582 0.04130
NM_133642.5(LARGE1):c.1132-318A>G rs11913784 0.04109
NM_133642.5(LARGE1):c.1452-254A>C rs75528068 0.03710
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.1452-209T>C rs79121173 0.02741
NM_133642.5(LARGE1):c.1730+118G>A rs80188851 0.02730
NM_133642.5(LARGE1):c.1730+239G>A rs75729506 0.02621
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.1451+197T>C rs151150001 0.02220
NM_133642.5(LARGE1):c.1731-87G>T rs11913298 0.02191
NM_133642.5(LARGE1):c.1006-280A>G rs75119296 0.02053
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
GRCh37/hg19 22q12.3(chr22:33698972-33706824)x1
GRCh37/hg19 22q12.3(chr22:33736087-33736744)x1
GRCh37/hg19 22q12.3(chr22:33736087-33743341)x0
GRCh37/hg19 22q12.3(chr22:33755901-33760604)x1
GRCh37/hg19 22q12.3(chr22:33763247-33771672)x1
GRCh37/hg19 22q12.3(chr22:33779182-33782594)x1
GRCh37/hg19 22q12.3(chr22:33780897-33782594)x0
GRCh37/hg19 22q12.3(chr22:33781011-33782594)x1
GRCh37/hg19 22q12.3(chr22:33904676-33915455)x3
GRCh37/hg19 22q12.3(chr22:33963790-33981599)x1
GRCh37/hg19 22q12.3(chr22:34015991-34259378)x1
GRCh37/hg19 22q12.3(chr22:34047444-34050747)x1
GRCh37/hg19 22q12.3(chr22:34087695-34148622)x1
NM_133642.5(LARGE1):c.-82-194_-82-192del rs71667420
NM_133642.5(LARGE1):c.107-184G>C rs9621741
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.1731-88G>T rs11913299
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.1877+89G>A rs5998842
NM_133642.5(LARGE1):c.2074-109G>A rs59957248
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA rs146169927
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA rs146169927
NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA rs146169927
NM_133642.5(LARGE1):c.788-333ATGA[10] rs10626676
NM_133642.5(LARGE1):c.788-333ATGA[8] rs10626676
NM_133642.5(LARGE1):c.893-64_893-55del rs150907937

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