ClinVar Miner

List of variants in gene SMARCB1 studied for Coffin-Siris syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_003073.5(SMARCB1):c.*113C>T rs886057286
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*15C>A rs369400289
NM_003073.5(SMARCB1):c.*17C>T rs372348692
NM_003073.5(SMARCB1):c.*279G>A rs886057287
NM_003073.5(SMARCB1):c.*293C>T rs754865420
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-115C>T rs551328283
NM_003073.5(SMARCB1):c.-117C>T rs11090285
NM_003073.5(SMARCB1):c.-148T>C rs886057283
NM_003073.5(SMARCB1):c.-149C>T rs886057282
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.-17C>T rs372777519
NM_003073.5(SMARCB1):c.362+7C>T rs34746244
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010
NM_003073.5(SMARCB1):c.628+13C>T rs184021903
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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