ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.*36+989dup rs59908561

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