List of variants reported as uncertain significance for homocystinuria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	rs117687681	0.00255
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	rs140002610	0.00038
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)	rs782013532	0.00003
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	rs782010359	0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)	rs782138046	0.00002
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)	rs2100495013
NM_015506.3(MMACHC):c.701del (p.Leu234fs)	rs767339897

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