ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 15
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HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) rs1554256703
NM_020732.3(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
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.3548del (p.Pro1183fs) rs1562331655
NM_020732.3(ARID1B):c.3689+1G>C rs1057518691
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter)
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.4889del (p.Asp1630fs) rs1562347066
NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) rs1554237658
NM_020732.3(ARID1B):c.6700del (p.Leu2234fs) rs1562355401

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