ClinVar Miner

List of variants reported as pathogenic for homocystinuria by New York Genome Center

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.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007

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