ClinVar Miner

List of variants reported for Hereditary spherocytosis type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)	rs16890758	0.01205
NM_000037.4(ANK1):c.489C>T (p.Leu163=)	rs34173100	0.01106
NM_000037.4(ANK1):c.1999-17C>T	rs28571216	0.00543
NM_000037.4(ANK1):c.5097-34C>T	rs185434561	0.00261
NM_000037.4(ANK1):c.2390_2393del

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