ClinVar Miner

List of variants studied for intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Included ClinVar conditions (2):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_138576.4(BCL11B):c.1521C>T (p.Gly507=) rs745896590 0.00062
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys) rs200835381 0.00005
NM_138576.4(BCL11B):c.1679C>T (p.Ser560Leu) rs1200651928 0.00001
NM_138576.4(BCL11B):c.1130C>T (p.Pro377Leu) rs1273945817
NM_138576.4(BCL11B):c.1206del (p.Phe403fs)
NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)
NM_138576.4(BCL11B):c.1219C>G (p.Pro407Ala)
NM_138576.4(BCL11B):c.1219C>T (p.Pro407Ser)
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs) rs2139759372
NM_138576.4(BCL11B):c.1495G>T (p.Glu499Ter) rs1555376234
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)
NM_138576.4(BCL11B):c.1582del (p.His528fs) rs2139757991
NM_138576.4(BCL11B):c.1657G>C (p.Glu553Gln) rs1283714584
NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs) rs2139757401
NM_138576.4(BCL11B):c.1707del (p.Gly570fs)
NM_138576.4(BCL11B):c.1742del (p.Gly581fs) rs1886447945
NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)
NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs) rs1886445034
NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe) rs2139953989
NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.1996C>T (p.Pro666Ser)
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.2108C>A (p.Pro703Gln)
NM_138576.4(BCL11B):c.211del (p.Leu71fs) rs2139953911
NM_138576.4(BCL11B):c.2222C>T (p.Ser741Phe) rs2139754017
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs) rs2139753299
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138576.4(BCL11B):c.242del (p.Cys81fs) rs1555384300
NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs) rs1886396455
NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs) rs2139753087
NM_138576.4(BCL11B):c.2443del (p.Arg815fs)
NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs) rs2139753037
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs) rs1555376035
NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
NM_138576.4(BCL11B):c.2605del (p.Leu869fs)
NM_138576.4(BCL11B):c.2671del (p.Ala891fs) rs1555376017
NM_138576.4(BCL11B):c.334C>G (p.Pro112Ala)
NM_138576.4(BCL11B):c.427+1G>A rs2139953103
NM_138576.4(BCL11B):c.473C>T (p.Ala158Val)
NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter) rs1886522103
NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln) rs1886516216
NM_138576.4(BCL11B):c.814G>C (p.Glu272Gln)
NM_138576.4(BCL11B):c.908del (p.Pro303fs)
NM_138576.4(BCL11B):c.992G>T (p.Ser331Ile)

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