ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 16
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GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_001346813.1(ARID1B):c.3406_3407dup (p.Pro1137fs) rs1057519009
NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter) rs1451259945
NM_001374820.1(ARID1B):c.3326del (p.Leu1109fs)
NM_001374820.1(ARID1B):c.5104del (p.Val1702fs)
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
NM_017519.2(ARID1B):c.3057_3061del (p.Lys1020fs) rs1131692263
NM_017519.2(ARID1B):c.6434del (p.Asn2145fs) rs1562354784
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.5025+1G>A rs1057518984
NM_020732.3(ARID1B):c.5026-2A>C rs1562350940
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) rs1451259945
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346

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