ClinVar Miner

List of variants in gene CA12 reported as likely pathogenic for Isolated hyperchlorhidrosis

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001218.5(CA12):c.908-1G>A	rs148438059	0.00043
NM_001218.5(CA12):c.956_957del (p.Val319fs)	rs757974800

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