ClinVar Miner

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

Included ClinVar conditions (4):
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Total variants: 19
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HGVS dbSNP
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_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
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) rs1583469292
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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