ClinVar Miner

List of variants reported as uncertain significance for homocystinuria by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (21):

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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1479G>A (p.Thr493=)	rs143225442	0.00029
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)	rs370851632

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