List of variants studied for Coffin-Siris syndrome by Mendelics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser)	rs777557012	0.00001
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)	rs1554248082
NM_001374828.1(ARID1B):c.2248-2A>G	rs2128462015
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs)	rs1583491381
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)	rs1583491515
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5263+1G>T	rs2128377544
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs)	rs2128385522
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)	rs587779743
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs)	rs1583518354
NM_001394372.1(BICRA):c.3248+1G>A	rs1490477251
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)	rs1305965061
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe)	rs991368727
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)	rs2103276337
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)	rs2103276340
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)	rs2124087634
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly)	rs749291779
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)	rs1570622663

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