List of variants in gene SLC4A1 reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)	rs2047407019
NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)
NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)

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