ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.2389-10C>T rs764935260 0.00010
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) rs1057518790
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) rs774067157

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