List of variants studied for Coffin-Siris syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)	rs1778944605
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)	rs869312712
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)	rs1554236040
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)	rs886041706
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)	rs869312697

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