ClinVar Miner

List of variants reported as likely pathogenic for Snijders Blok-Campeau syndrome

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001005273.3(CHD3):c.1555del (p.Glu519fs)
NM_001005273.3(CHD3):c.1888T>C (p.Trp630Arg) rs2151542224
NM_001005273.3(CHD3):c.2656C>G (p.His886Asp) rs2151569587
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr) rs2151569587
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.3(CHD3):c.2663T>C (p.Leu888Pro)
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe) rs1567855669
NM_001005273.3(CHD3):c.2746C>T (p.Gln916Ter) rs2151573039
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.3(CHD3):c.2798_2799del (p.Arg933fs)
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp) rs1064795892
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001005273.3(CHD3):c.2912A>C (p.Asp971Ala)
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>C (p.Arg985Pro)
NM_001005273.3(CHD3):c.296C>A (p.Pro99Gln)
NM_001005273.3(CHD3):c.2975A>G (p.Gln992Arg)
NM_001005273.3(CHD3):c.3020T>G (p.Leu1007Trp)
NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln)
NM_001005273.3(CHD3):c.3239T>A (p.Leu1080His) rs2151582175
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075
NM_001005273.3(CHD3):c.3358G>A (p.Asp1120Asn) rs1350258866
NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val) rs1970460175
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.3(CHD3):c.3416G>A (p.Gly1139Glu)
NM_001005273.3(CHD3):c.3478C>A (p.Pro1160Thr)
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.3(CHD3):c.3506G>C (p.Arg1169Pro)
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.3(CHD3):c.3514C>T (p.Arg1172Trp) rs867862540
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>A (p.Arg1187His)
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.3562G>A (p.Ala1188Thr)
NM_001005273.3(CHD3):c.3592_3606del (p.Ala1198_Met1202del)
NM_001005273.3(CHD3):c.3603G>T (p.Lys1201Asn) rs2151604078
NM_001005273.3(CHD3):c.3683T>G (p.Ile1228Ser)
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.3(CHD3):c.3776C>T (p.Ala1259Val) rs2151608196
NM_001005273.3(CHD3):c.3877G>A (p.Val1293Met)
NM_001005273.3(CHD3):c.3878T>C (p.Val1293Ala) rs2151609046
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4043A>C (p.Asn1348Thr)
NM_001005273.3(CHD3):c.4073-2A>C rs1567864750
NM_001005273.3(CHD3):c.4077_4080delinsGTGGGGGTGGAGT (p.Asn1359_Gln1360delinsLysTrpGlyTrpSer) rs2151622456
NM_001005273.3(CHD3):c.4091C>T (p.Ser1364Leu)
NM_001005273.3(CHD3):c.4243C>T (p.Arg1415Cys)
NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)
NM_001005273.3(CHD3):c.5383C>T (p.Arg1795Trp)
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.3(CHD3):c.5663G>A (p.Arg1888Gln)
NM_001005273.3(CHD3):c.571del (p.Ala191fs)
NM_001005273.3(CHD3):c.5796_5800dup (p.Ala1934fs) rs2151687226
NM_001005273.3(CHD3):c.5812G>A (p.Ala1938Thr) rs1482536453
NM_001005273.3(CHD3):c.933dup (p.Gln312fs)

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