ClinVar Miner

List of variants in gene ARID1B reported as pathogenic by Baylor Miraca Genetics Laboratories,

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Total variants: 13
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HGVS dbSNP
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) rs1554256703
NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter)
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter)
NM_020732.3(ARID1B):c.3547delC (p.Pro1183Leufs)
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)
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.4889delA (p.Asp1630Valfs)
NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) rs1554237658
NM_020732.3(ARID1B):c.6700delC (p.Leu2234Trpfs)

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