List of variants in gene ARID1B studied for Coffin-Siris syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.1951G>A (p.Gly651Arg)	rs765362265	0.00004
NM_001374828.1(ARID1B):c.4129A>G (p.Met1377Val)	rs138784762	0.00003
NM_001374828.1(ARID1B):c.5096C>T (p.Pro1699Leu)	rs1455506883	0.00002
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val)	rs766875935	0.00001
NM_001374828.1(ARID1B):c.1281_1292del (p.Ala430_Ala433del)
NM_001374828.1(ARID1B):c.1436G>A (p.Gly479Asp)
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr)	rs1562378653
NM_001374828.1(ARID1B):c.3029G>T (p.Arg1010Leu)
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)	rs1057519009
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter)	rs1554231904
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)	rs1794042593
NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs)	rs2128372930
NM_001374828.1(ARID1B):c.5394+1G>A	rs1057518984
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)	rs1794456297
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs)	rs2128393408
NM_001374828.1(ARID1B):c.6946_6947del (p.Asp2316fs)

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