ClinVar Miner

List of variants in gene SMARCB1 studied for embryonal neoplasm

Included ClinVar conditions (54):
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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.-31C>T rs34276473 0.00535
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
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.-184G>A rs563943196 0.00165
NM_003073.5(SMARCB1):c.*159C>G rs1022324232 0.00055
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.*15C>A rs369400289 0.00028
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_003073.5(SMARCB1):c.*113C>T rs886057286 0.00008
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.-148T>C rs886057283 0.00003
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) rs145695677 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.*279G>A rs886057287 0.00001
NM_003073.5(SMARCB1):c.-83C>T rs1374186002 0.00001
NM_003073.5(SMARCB1):c.500+6G>C rs772329556 0.00001
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NC_000022.10:g.(?_24133937)_(24176373_?)dup
NC_000022.10:g.(?_24143125)_(24176373_?)dup
NC_000022.10:g.24171601-(24180196_?)
NC_000022.11:g.(?_23787164)_(23834186_?)del
NC_000022.11:g.(?_23793553)_(23793694_?)del
NC_000022.11:g.(?_23833566)_(23834186_?)del
NM_003073.5(SMARCB1):c.*100C>G rs1363655817
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*197A>C rs1306414841
NM_003073.5(SMARCB1):c.*307A>G rs2030874248
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs) rs2030790572
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1102C>T (p.Gln368Ter)
NM_003073.5(SMARCB1):c.1118+8T>C rs2030796889
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met) rs922052006
NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) rs1555875917
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.232+59A>G
NM_003073.5(SMARCB1):c.232+5G>A rs1555875932
NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser)
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala) rs1601391157
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
NM_003073.5(SMARCB1):c.591del (p.Gln198fs) rs587776678
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.632A>G (p.Lys211Arg)
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) rs1930218305
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) rs768379745
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.795+9C>T rs1007579645
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176
NM_003073.5(SMARCB1):c.812del (p.Gly271fs) rs1601433318
NM_003073.5(SMARCB1):c.93+374A>G
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys) rs1265308124
NM_003073.5(SMARCB1):c.986+1G>A rs112038099
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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