ClinVar Miner

List of variants studied for Snijders Blok-Campeau syndrome by New York Genome Center

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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.4861G>A (p.Val1621Met) rs1281078302 0.00001
NM_001005273.3(CHD3):c.4945G>C (p.Glu1649Gln) rs749147376 0.00001
NM_001005273.3(CHD3):c.214-5C>T rs2151465885
NM_001005273.3(CHD3):c.2656C>G (p.His886Asp) rs2151569587
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala) rs1274009768
NM_001005273.3(CHD3):c.4077_4080delinsGTGGGGGTGGAGT (p.Asn1359_Gln1360delinsLysTrpGlyTrpSer) rs2151622456
NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val)
NM_001005273.3(CHD3):c.4556C>G (p.Pro1519Arg) rs1567868694
NM_001005273.3(CHD3):c.4788+6T>A rs1401481408

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