ClinVar Miner

List of variants in gene SETD1B reported as likely pathogenic for not provided

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001353345.2(SETD1B):c.141_142del (p.Tyr48fs) rs2137541869
NM_001353345.2(SETD1B):c.2978-2A>G
NM_001353345.2(SETD1B):c.3418+2_3418+3del rs2137568213
NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs) rs2137578021
NM_001353345.2(SETD1B):c.5828A>G (p.Tyr1943Cys) rs1877026008
NM_001353345.2(SETD1B):c.955_958dup (p.Ala320fs) rs1875933090

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