ClinVar Miner

List of variants studied for Cryohydrocytosis

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)

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