ClinVar Miner

List of variants reported as pathogenic for Dehydrated hereditary stomatocytosis 2 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)	rs774455945
NM_002250.3(KCNN4):c.844G>A (p.Val282Met)	rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)	rs1057519077

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