List of variants studied for Snijders Blok-Campeau syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001005273.3(CHD3):c.4904G>A (p.Arg1635His)	rs944479623	0.00001
NM_001005273.3(CHD3):c.1123G>A (p.Glu375Lys)	rs2151508314
NM_001005273.3(CHD3):c.1919+4A>G	rs2151542577
NM_001005273.3(CHD3):c.3239T>A (p.Leu1080His)	rs2151582175
NM_001005273.3(CHD3):c.3358G>A (p.Asp1120Asn)	rs1350258866
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.3877G>A (p.Val1293Met)
NM_001005273.3(CHD3):c.4022A>G (p.Lys1341Arg)
NM_001005273.3(CHD3):c.4357_4358+2del	rs1970877175

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