ClinVar Miner

List of variants studied for homocystinuria by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (21):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)	rs748571395	0.00001
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)	rs1666006480
NM_000254.3(MTR):c.609+1088G>A	rs752526782
NM_015702.3(MMADHC):c.9+5G>A

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