List of variants reported as not provided for homocystinuria by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	rs121964962	0.00025
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)	rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)	rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)	rs864309741
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)	rs397509362
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)	rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)	rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)	rs864309742

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