ClinVar Miner

List of variants in gene LARGE1 reported as likely 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.2073+152G>A rs2075921 0.04155
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_133642.5(LARGE1):c.1452-293A>G rs1555007 0.02310
NM_133642.5(LARGE1):c.408+269G>A rs16992701 0.01756
NM_133642.5(LARGE1):c.788-65A>G rs80069366 0.01526
NM_133642.5(LARGE1):c.1131+221C>T rs16992221 0.01412
NM_133642.5(LARGE1):c.1288-125G>A rs117098200 0.01356
NM_133642.5(LARGE1):c.2074-265G>A rs16992044 0.01297
NM_133642.5(LARGE1):c.491+204G>A rs117818422 0.01119
NM_133642.5(LARGE1):c.2074-98G>C rs41282599 0.01097
NM_133642.5(LARGE1):c.1005+282G>A rs116177817 0.01071
NM_133642.5(LARGE1):c.1131+110G>T rs78374444 0.01046
NM_133642.5(LARGE1):c.1287+146C>T rs138816517 0.00980
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA rs1569034184 0.00933
NM_133642.5(LARGE1):c.1877+99C>T rs79668268 0.00826
NM_133642.5(LARGE1):c.1451+38C>T rs80016718 0.00792
NM_133642.5(LARGE1):c.1287+56A>G rs112252346 0.00774
NM_133642.5(LARGE1):c.1131+58C>T rs144087511 0.00746
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.-83+187C>T rs77908284 0.00605
NM_133642.5(LARGE1):c.1005+176C>T rs73882212 0.00597
NM_133642.5(LARGE1):c.788-29A>G rs147579402 0.00569
NM_133642.5(LARGE1):c.1005+98G>A rs2235151 0.00503
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.-83+63134A>G rs148432069 0.00374
NM_133642.5(LARGE1):c.1451+273A>G rs190325661 0.00354
NM_133642.5(LARGE1):c.408+42C>T rs183384695 0.00330
NM_133642.5(LARGE1):c.616-304T>G rs182874546 0.00227
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) rs116734942 0.00081
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) rs368043810 0.00016
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) rs114246562 0.00011
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) rs113492643 0.00006
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) rs142272515 0.00003
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1878-24A>G rs375863881 0.00002
NM_133642.5(LARGE1):c.615+8C>T rs587783731 0.00002
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) rs369877399 0.00001
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
NM_133642.5(LARGE1):c.117C>A (p.Pro39=) rs140622529
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
NM_133642.5(LARGE1):c.1452-1058A>T
NM_133642.5(LARGE1):c.1452-7C>T rs760909985
NM_133642.5(LARGE1):c.1731-10C>T rs772579469
NM_133642.5(LARGE1):c.216G>C (p.Val72=) rs567998643
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) rs1406330296
NM_133642.5(LARGE1):c.409-39G>C rs145859359
NM_133642.5(LARGE1):c.549C>T (p.Ala183=) rs1602669837
NM_133642.5(LARGE1):c.616-39del rs201800550
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA rs146169927
NM_133642.5(LARGE1):c.788-333ATGA[11] rs10626676
NM_133642.5(LARGE1):c.788-346CATG[5] rs1555916106
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239

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