ClinVar Miner

List of variants reported by Malformation Genetics, Karolinska Institutet

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002202.3(ISL1):c.479-4G>A rs2303750 0.00422
NM_002202.3(ISL1):c.137C>G (p.Ala46Gly) rs755382547

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