ClinVar Miner

List of variants in gene ARID1B reported as likely pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_020732.3(ARID1B):c.2371G>A (p.Gly791Ser) rs1057518045
NM_020732.3(ARID1B):c.2879+2T>C rs1057518318
NM_020732.3(ARID1B):c.3048G>T (p.Met1016Ile) rs1057518059
NM_020732.3(ARID1B):c.3823delinsCATGAGCCCA (p.Tyr1275delinsHisGluProAsn) rs1554233151
NM_020732.3(ARID1B):c.5462_5466del (p.Leu1821fs) rs1131691508
NM_020732.3(ARID1B):c.6095C>T (p.Ser2032Phe) rs886039594
NM_020732.3(ARID1B):c.6124G>A (p.Glu2042Lys) rs1064794799
NM_020732.3(ARID1B):c.6406T>C (p.Ser2136Pro) rs1057521854

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