ClinVar Miner

List of variants studied for Dias-Logan syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys) rs146235767 0.00005
NM_022893.4(BCL11A):c.1283T>A (p.Met428Lys) rs773213221 0.00002
NM_001363864.1(BCL11A):c.2281-2A>C
NM_001386298.1(CIC):c.6584G>A (p.Arg2195His)
NM_018014.4(BCL11A):c.2231-5dup rs113307140
NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp) rs1265922527
NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val) rs746326118
NM_022893.4(BCL11A):c.1078dup (p.Leu360fs) rs768799046
NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser) rs1676309768
NM_022893.4(BCL11A):c.1118dup (p.Val374fs) rs2103850595
NM_022893.4(BCL11A):c.1135del (p.Cys379fs) rs2103850075
NM_022893.4(BCL11A):c.127C>T (p.His43Tyr)
NM_022893.4(BCL11A):c.1345del (p.Glu449fs) rs2103845910
NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)
NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro) rs886037864
NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)
NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg) rs1670145300
NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe) rs886037865
NM_022893.4(BCL11A):c.1442del (p.Glu481fs)
NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter)
NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter)
NM_022893.4(BCL11A):c.1519del (p.Glu507fs) rs2103841359
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)
NM_022893.4(BCL11A):c.15G>A (p.Lys5=) rs2104801368
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)
NM_022893.4(BCL11A):c.1656C>T (p.Leu552=)
NM_022893.4(BCL11A):c.1663A>T (p.Met555Leu) rs770356174
NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val)
NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter) rs1489297664
NM_022893.4(BCL11A):c.176A>T (p.Asp59Val)
NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup) rs886037867
NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser)
NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs) rs2103830741
NM_022893.4(BCL11A):c.1847del (p.Gly616fs) rs1382819519
NM_022893.4(BCL11A):c.184del (p.Ile62fs)
NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter) rs1553353022
NM_022893.4(BCL11A):c.198C>A (p.His66Gln) rs886037866
NM_022893.4(BCL11A):c.1A>G (p.Met1Val) rs1573109761
NM_022893.4(BCL11A):c.2138G>A (p.Arg713His) rs554884428
NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)
NM_022893.4(BCL11A):c.270C>G (p.Ile90Met) rs1446265434
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_022893.4(BCL11A):c.317C>T (p.Thr106Met) rs1670134440
NM_022893.4(BCL11A):c.35T>G (p.Leu12Ter) rs2104801226
NM_022893.4(BCL11A):c.385+2T>C rs1553352926
NM_022893.4(BCL11A):c.3G>A (p.Met1Ile) rs2104801406
NM_022893.4(BCL11A):c.512_519del (p.Thr171fs) rs2103863117
NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)
NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter) rs1553403736
NM_022893.4(BCL11A):c.540_546del (p.Ser181fs)
NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)
NM_022893.4(BCL11A):c.759_769del (p.Leu254fs)
NM_022893.4(BCL11A):c.791C>G (p.Pro264Arg)
NM_022893.4(BCL11A):c.875del (p.His292fs)
NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)

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