ClinVar Miner

List of variants in gene ARID1B reported as likely pathogenic for Coffin-Siris syndrome 1

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Total variants: 13
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HGVS dbSNP
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_017519.2(ARID1B):c.2130_2149del
NM_020732.3(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
NM_020732.3(ARID1B):c.1836del
NM_020732.3(ARID1B):c.3096_3100del (p.Lys1033fs) rs1131692263
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter)
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) rs797045278
NM_020732.3(ARID1B):c.5026-2A>C rs1562350940
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) rs1451259945
NM_020732.3(ARID1B):c.5482G>T (p.Glu1828Ter) rs1451259945
NM_020732.3(ARID1B):c.6473del (p.Asn2158fs) rs1562354784
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346

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