ClinVar Miner

List of variants in gene combination INSL6, JAK2 reported as uncertain significance for Budd-Chiari syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.*1337T>C rs1057515601 0.00006
NM_004972.4(JAK2):c.*1288_*1289insGT rs1057515597
NM_004972.4(JAK2):c.*1291GT[19] rs139964957
NM_004972.4(JAK2):c.*1291GT[23] rs139964957
NM_004972.4(JAK2):c.*1388_*1392dup rs1038207109
NM_004972.4(JAK2):c.*91TAT[1] rs1057515594
NM_004972.4(JAK2):c.2762-10_2762-9del rs529050943

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