ClinVar Miner

List of variants studied for Overhydrated hereditary stomatocytosis

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser) rs1554172605
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.3(RHAG):c.447T>G (p.Ile149Met) rs1554174425
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.3(RHAG):c.974A>G (p.His325Arg)

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