ClinVar Miner

List of variants in gene CHD3 studied for Snijders Blok-Campeau syndrome

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Gene type:
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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.5262-17T>C rs4239111 0.88773
NM_001005273.3(CHD3):c.5950G>A (p.Gly1984Arg) rs372395250 0.00022
NM_001005273.3(CHD3):c.4976A>G (p.Gln1659Arg) rs200096964 0.00008
NM_001005273.3(CHD3):c.5798C>T (p.Ala1933Val) rs140448992 0.00008
NM_001005273.3(CHD3):c.3373C>G (p.Pro1125Ala) rs746347255 0.00006
NM_001005273.3(CHD3):c.2084C>T (p.Pro695Leu) rs1969954027 0.00001
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys) rs758150597 0.00001
NM_001005273.3(CHD3):c.214-20T>C rs1478890465 0.00001
NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met) rs1281078302 0.00001
NM_001005273.3(CHD3):c.4904G>A (p.Arg1635His) rs944479623 0.00001
NM_001005273.3(CHD3):c.4945G>C (p.Glu1649Gln) rs749147376 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001005273.3(CHD3):c.5335G>C (p.Glu1779Gln) rs200555446 0.00001
NM_001005273.3(CHD3):c.1555del (p.Glu519fs)
NM_001005273.3(CHD3):c.1612_1613delinsA (p.Pro538fs)
NM_001005273.3(CHD3):c.1613C>T (p.Pro538Leu) rs200461939
NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)
NM_001005273.3(CHD3):c.1658A>T (p.Lys553Met)
NM_001005273.3(CHD3):c.1708-1G>T
NM_001005273.3(CHD3):c.1835C>G (p.Pro612Arg) rs767239315
NM_001005273.3(CHD3):c.1888T>C (p.Trp630Arg) rs2151542224
NM_001005273.3(CHD3):c.1919+4A>G rs2151542577
NM_001005273.3(CHD3):c.2000A>G (p.Glu667Gly)
NM_001005273.3(CHD3):c.2096A>G (p.Lys699Arg)
NM_001005273.3(CHD3):c.20_21del (p.Val7fs)
NM_001005273.3(CHD3):c.2129del (p.Pro710fs)
NM_001005273.3(CHD3):c.214-5C>T rs2151465885
NM_001005273.3(CHD3):c.2150A>G (p.Asp717Gly)
NM_001005273.3(CHD3):c.2333T>A (p.Leu778His)
NM_001005273.3(CHD3):c.2356G>T (p.Gly786Cys)
NM_001005273.3(CHD3):c.2491T>C (p.Phe831Leu)
NM_001005273.3(CHD3):c.2600T>C (p.Ile867Thr)
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.2749A>G (p.Asn917Asp)
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.3(CHD3):c.2785C>T (p.Leu929Phe)
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.2915T>A (p.Val972Asp)
NM_001005273.3(CHD3):c.2947A>G (p.Ile983Val)
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln) rs1567856331
NM_001005273.3(CHD3):c.2954G>C (p.Arg985Pro)
NM_001005273.3(CHD3):c.2960A>C (p.Glu987Ala)
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.3119T>C (p.Met1040Thr)
NM_001005273.3(CHD3):c.3152A>C (p.Glu1051Ala)
NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln)
NM_001005273.3(CHD3):c.3239T>A (p.Leu1080His) rs2151582175
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del) rs1567859975
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.3362G>C (p.Arg1121Pro) rs1567860112
NM_001005273.3(CHD3):c.3371C>T (p.Ala1124Val)
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala) rs1274009768
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.3(CHD3):c.3416G>A (p.Gly1139Glu)
NM_001005273.3(CHD3):c.3431A>G (p.Asn1144Ser)
NM_001005273.3(CHD3):c.3431A>T (p.Asn1144Ile)
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg) rs1567860891
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_001005273.3(CHD3):c.3478C>A (p.Pro1160Thr)
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
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.3541A>T (p.Ile1181Phe) rs2151603544
NM_001005273.3(CHD3):c.3560G>A (p.Arg1187His)
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.3561dup (p.Ala1188fs)
NM_001005273.3(CHD3):c.3562G>A (p.Ala1188Thr)
NM_001005273.3(CHD3):c.3563C>G (p.Ala1188Gly)
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.3797G>A (p.Arg1266Gln)
NM_001005273.3(CHD3):c.385-56C>G rs12450454
NM_001005273.3(CHD3):c.3851_3852delinsTT (p.Ser1284Ile)
NM_001005273.3(CHD3):c.3877G>A (p.Val1293Met)
NM_001005273.3(CHD3):c.3878T>C (p.Val1293Ala) rs2151609046
NM_001005273.3(CHD3):c.3910C>T (p.Arg1304Ter)
NM_001005273.3(CHD3):c.4004G>A (p.Arg1335Gln)
NM_001005273.3(CHD3):c.4022A>G (p.Lys1341Arg)
NM_001005273.3(CHD3):c.4024C>T (p.Arg1342Trp) rs2151615708
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.4073-3_4078del
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.4100_4101insT (p.Glu1368fs)
NM_001005273.3(CHD3):c.4117G>T (p.Asp1373Tyr)
NM_001005273.3(CHD3):c.4274T>C (p.Met1425Thr)
NM_001005273.3(CHD3):c.4280G>A (p.Trp1427Ter) rs1555613750
NM_001005273.3(CHD3):c.4357_4358+2del rs1970877175
NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val)
NM_001005273.3(CHD3):c.4381C>T (p.Arg1461Cys)
NM_001005273.3(CHD3):c.4489C>G (p.Leu1497Val)
NM_001005273.3(CHD3):c.4507C>T (p.Gln1503Ter)
NM_001005273.3(CHD3):c.4528G>A (p.Gly1510Arg)
NM_001005273.3(CHD3):c.4531C>T (p.Arg1511Cys)
NM_001005273.3(CHD3):c.4544C>T (p.Pro1515Leu)
NM_001005273.3(CHD3):c.4556C>G (p.Pro1519Arg) rs1567868694
NM_001005273.3(CHD3):c.4589G>C (p.Arg1530Thr) rs1971039767
NM_001005273.3(CHD3):c.4604C>A (p.Thr1535Asn)
NM_001005273.3(CHD3):c.4648C>A (p.Pro1550Thr) rs2151641010
NM_001005273.3(CHD3):c.4775A>G (p.Lys1592Arg)
NM_001005273.3(CHD3):c.4786G>A (p.Glu1596Lys)
NM_001005273.3(CHD3):c.4788+6T>A rs1401481408
NM_001005273.3(CHD3):c.4950G>T (p.Arg1650Ser)
NM_001005273.3(CHD3):c.5027-3C>T
NM_001005273.3(CHD3):c.5053C>T (p.Arg1685Ter) rs1971195837
NM_001005273.3(CHD3):c.5077C>T (p.Arg1693Trp) rs369558887
NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)
NM_001005273.3(CHD3):c.5116C>T (p.Arg1706Trp)
NM_001005273.3(CHD3):c.5117G>A (p.Arg1706Gln)
NM_001005273.3(CHD3):c.5134G>A (p.Ala1712Thr)
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)
NM_001005273.3(CHD3):c.5306T>C (p.Phe1769Ser) rs2151661305
NM_001005273.3(CHD3):c.5383C>T (p.Arg1795Trp)
NM_001005273.3(CHD3):c.5541dup (p.Lys1848fs) rs2151667298
NM_001005273.3(CHD3):c.5591-6C>A
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.5754G>A (p.Pro1918=)
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.5896C>A (p.Pro1966Thr) rs201611412
NM_001005273.3(CHD3):c.5941G>A (p.Val1981Met)
NM_001005273.3(CHD3):c.682G>A (p.Val228Ile)
NM_001005273.3(CHD3):c.719C>A (p.Pro240His)

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