ClinVar Miner

List of variants in gene SMARCB1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.232+221T>C rs5760021 0.92915
NM_003073.5(SMARCB1):c.232+313T>C rs5760022 0.92408
NM_003073.5(SMARCB1):c.628+66G>C rs5751738 0.92402
NM_003073.5(SMARCB1):c.501-87A>G rs5760030 0.92398
NM_003073.3(SMARCB1):c.-352T>G rs2073387 0.92379
NM_003073.5(SMARCB1):c.629-248A>G rs2073392 0.92347
NM_003073.5(SMARCB1):c.500+234C>G rs738797 0.80402
NM_003073.5(SMARCB1):c.628+118C>T rs5760032 0.69741
NM_003073.5(SMARCB1):c.795+184A>T rs2070458 0.69553
NM_003073.5(SMARCB1):c.363-153C>T rs9608186 0.58484
NM_003073.5(SMARCB1):c.363-154G>C rs9608185 0.58484
NM_003073.5(SMARCB1):c.629-260G>C rs2070456 0.39372
NM_003073.5(SMARCB1):c.629-58C>A rs2070457 0.30242
NM_003073.5(SMARCB1):c.987-176A>C rs2267045 0.23782
NM_003073.5(SMARCB1):c.987-319G>T rs34864242 0.17983
NM_003073.5(SMARCB1):c.1119-41G>A rs5030613 0.12892
NM_003073.5(SMARCB1):c.501-164C>T rs11090286 0.12280
NM_003073.5(SMARCB1):c.628+200T>C rs17003912 0.12185
NM_003073.5(SMARCB1):c.795+121G>A rs9612452 0.11986
NM_003073.5(SMARCB1):c.796-246G>A rs11704119 0.11984
NM_003073.5(SMARCB1):c.795+203C>T rs2073394 0.11969
NM_003073.5(SMARCB1):c.795+198T>C rs2070459 0.11963
NM_003073.5(SMARCB1):c.796-227C>T rs11704313 0.11962
NM_003073.5(SMARCB1):c.362+132C>T rs6003886 0.11539
NM_003073.5(SMARCB1):c.1119-164G>A rs9612483 0.11299
NM_003073.5(SMARCB1):c.986+300C>G rs34297729 0.11267
NM_003073.4(SMARCB1):c.-228G>T rs11704810 0.11093
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.93+346T>C rs55914016 0.10550
NM_003073.5(SMARCB1):c.629-62A>G rs9608192 0.10387
NM_003073.5(SMARCB1):c.987-139G>A rs2267046 0.10387
NM_003073.5(SMARCB1):c.93+685G>A rs62241578 0.08754
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_003073.5(SMARCB1):c.629-277C>T rs35753558 0.05945
NM_003073.5(SMARCB1):c.362+63A>G rs6003885 0.05519
NM_003073.3(SMARCB1):c.-485G>A rs6003879 0.04708
NM_003073.5(SMARCB1):c.987-109C>T rs35882817 0.04649
NM_003073.5(SMARCB1):c.629-202T>G rs35467366 0.04237
NM_003073.5(SMARCB1):c.94-157C>T rs76350592 0.02267
NM_003073.5(SMARCB1):c.93+818C>T rs116422729 0.01561
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604 0.00010
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002
GRCh37/hg19 22q11.23(chr22:24129005-24133570)x0
NM_003073.3(SMARCB1):c.-427C>T rs6003880
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[3] rs5030614
NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[4]
NM_003073.5(SMARCB1):c.1118+163G>T rs17003998
NM_003073.5(SMARCB1):c.1119-82del rs34107335
NM_003073.5(SMARCB1):c.362+109_362+110dup rs11413092
NM_003073.5(SMARCB1):c.362+110dup rs11413092
NM_003073.5(SMARCB1):c.500+882C>G
NM_003073.5(SMARCB1):c.629-126del rs34737764
NM_003073.5(SMARCB1):c.795+153A>G rs2073393
NM_003073.5(SMARCB1):c.93+104_93+105del rs372743461
NM_003073.5(SMARCB1):c.93+105GC[7] rs55705149
NM_003073.5(SMARCB1):c.93+105GC[9] rs55705149
NM_003073.5(SMARCB1):c.93+44G>C rs35243495
NM_003073.5(SMARCB1):c.93+95GGGC[4] rs60395093
NM_003073.5(SMARCB1):c.93+99_93+127del rs200930637
NM_003073.5(SMARCB1):c.986+143TCC[2] rs4050151
NM_003073.5(SMARCB1):c.986+57_986+58dup rs5844569

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