ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by 3billion

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.181del (p.Val61fs)
NM_000037.4(ANK1):c.2283del (p.Asn761fs)
NM_000037.4(ANK1):c.2389-8C>A
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter) rs2150556792

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