ClinVar Miner

List of variants reported as likely pathogenic by Human Development and Health, University of Southampton

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005157.6(ABL1):c.1297G>A (p.Ala433Thr) rs1831388695
NM_005157.6(ABL1):c.1517T>C (p.Val506Ala) rs1831432776
NM_005157.6(ABL1):c.1525G>A (p.Glu509Lys) rs1831433011

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