ClinVar Miner

List of variants reported as pathogenic for homocystinuria by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	0.00002
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001

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