ClinVar Miner

List of variants reported as uncertain significance for Snijders Blok-Campeau syndrome

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ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
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.1282G>A (p.Val428Ile) rs141138068 0.00002
NM_001005271.3(CHD3):c.250C>T (p.Pro84Ser) rs1329540442 0.00001
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.5335G>C (p.Glu1779Gln) rs200555446 0.00001
NM_001005271.3(CHD3):c.250C>A (p.Pro84Thr)
NM_001005271.3(CHD3):c.45G>A (p.Met15Ile)
NM_001005273.3(CHD3):c.1076-14G>A
NM_001005273.3(CHD3):c.1123G>A (p.Glu375Lys) rs2151508314
NM_001005273.3(CHD3):c.1235G>A (p.Arg412Gln)
NM_001005273.3(CHD3):c.1613C>T (p.Pro538Leu) rs200461939
NM_001005273.3(CHD3):c.1658A>T (p.Lys553Met)
NM_001005273.3(CHD3):c.1835C>G (p.Pro612Arg) rs767239315
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.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>T (p.His886Tyr) rs2151569587
NM_001005273.3(CHD3):c.2915T>A (p.Val972Asp)
NM_001005273.3(CHD3):c.2947A>G (p.Ile983Val)
NM_001005273.3(CHD3):c.2960A>C (p.Glu987Ala)
NM_001005273.3(CHD3):c.3119T>C (p.Met1040Thr)
NM_001005273.3(CHD3):c.3152A>C (p.Glu1051Ala)
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del) rs1567859975
NM_001005273.3(CHD3):c.3371C>T (p.Ala1124Val)
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala) rs1274009768
NM_001005273.3(CHD3):c.3431A>G (p.Asn1144Ser)
NM_001005273.3(CHD3):c.3541A>T (p.Ile1181Phe) rs2151603544
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.3561dup (p.Ala1188fs)
NM_001005273.3(CHD3):c.3563C>G (p.Ala1188Gly)
NM_001005273.3(CHD3):c.3797G>A (p.Arg1266Gln)
NM_001005273.3(CHD3):c.3851_3852delinsTT (p.Ser1284Ile)
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.4117G>T (p.Asp1373Tyr)
NM_001005273.3(CHD3):c.4274T>C (p.Met1425Thr)
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.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.5077C>T (p.Arg1693Trp) rs369558887
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.5591-6C>A
NM_001005273.3(CHD3):c.5754G>A (p.Pro1918=)
NM_001005273.3(CHD3):c.5896C>A (p.Pro1966Thr) rs201611412
NM_001005273.3(CHD3):c.682G>A (p.Val228Ile)
NM_001005273.3(CHD3):c.719C>A (p.Pro240His)

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