ClinVar Miner

List of variants reported as likely benign for Kilquist syndrome by 3billion

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001046.3(SLC12A2):c.476C>T (p.Ala159Val)	rs774885519	0.00002
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr)	rs529490835
NM_001046.3(SLC12A2):c.3134C>T (p.Thr1045Ile)	rs777580088

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