List of variants in gene SLC4A1 reported as pathogenic for Cryohydrocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro)	rs863225463
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro)	rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg)	rs863225462

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