ClinVar Miner

List of variants studied for Hereditary spherocytosis type 1 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)	rs137852831	0.00001
NM_000037.4(ANK1):c.1519dup (p.Leu507fs)	rs397514029
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter)	rs137852829
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter)	rs137852830

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