ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by Baylor Genetics

Included ClinVar conditions (3):
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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
NM_017519.2(ARID1B):c.2981_2986+7del
NM_017519.2(ARID1B):c.3509del (p.Pro1170fs) rs1562331655
NM_017519.2(ARID1B):c.3529C>T (p.Gln1177Ter)
NM_017519.2(ARID1B):c.3650+1G>C rs1057518691
NM_017519.2(ARID1B):c.4850del (p.Asp1617fs) rs1562347066
NM_017519.2(ARID1B):c.6661del (p.Leu2221fs) rs1562355401
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) rs1554256703
NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter) rs1554265271
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter) rs1562328526
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter) rs772973856
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter) rs1554235834
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) rs1554237658

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