ClinVar Miner

List of variants in gene OBSL1 reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.1535-3_1535-2del rs1396471922 0.00001
NM_015311.3(OBSL1):c.1007_1012+29del rs1025372068
NM_015311.3(OBSL1):c.1012+1G>T
NM_015311.3(OBSL1):c.2134+1G>A rs1696928123
NM_015311.3(OBSL1):c.241del (p.Val81fs) rs1697309952
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) rs1449351602
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) rs780389591

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