ClinVar Miner

List of variants in gene ARID1B reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1693del (p.Gln565fs) rs1779015991
NM_001374828.1(ARID1B):c.2051_2052insAA (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2496del (p.Gln833fs) rs1786823829
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.4990C>T (p.Gln1664Ter) rs1554235882
NM_001374828.1(ARID1B):c.5394+1G>C rs1057518984
NM_001374828.1(ARID1B):c.6823del (p.Gln2275fs) rs1794563443

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