List of variants studied for Coffin-Siris syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)	rs587779750	0.00001
NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)
NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)	rs1876739249
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)	rs1582908829
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)	rs1583280025
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)	rs1583368813
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)	rs1794276185
NM_001394372.1(BICRA):c.386_401del (p.Phe129fs)	rs2123584685
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)	rs1555881567
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)	rs1555605795
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
NM_003108.4(SOX11):c.1216del (p.Ser406fs)	rs1572217107
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)	rs1553327954
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)	rs2124114899
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)	rs1553153291

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