ClinVar Miner

List of variants reported as pathogenic for Hereditary cryohydrocytosis with reduced stomatin

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)	rs864309522
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp)	rs864309514

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